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
CDK11A	728642	broad.mit.edu	37	1	1638926	1638926	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:1638926G>A	uc009vks.2	-	11	1275	c.1167C>T	c.(1165-1167)GGC>GGT	p.G389G	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Silent_p.G379G|CDK11A_uc010nys.1_Silent_p.G379G|CDK11A_uc010nyt.1_Silent_p.G389G|CDK11A_uc010nyu.1_RNA	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	392					apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GCACATAGTCGCCCTCTGTCA	0.652												
MMEL1	79258	broad.mit.edu	37	1	2526293	2526293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:2526293G>A	uc001ajy.2	-	17	1838	c.1624C>T	c.(1624-1626)CAG>TAG	p.Q542*	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	542	Potential.|Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGAGGTTCTGCAGACTGTTC	0.627												
TP73	7161	broad.mit.edu	37	1	3638707	3638707	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:3638707G>A	uc001akp.2	+	5	662	c.552G>A	c.(550-552)GCG>GCA	p.A184A	TP73_uc001akq.2_Silent_p.A184A|TP73_uc010nzj.1_Silent_p.A135A|TP73_uc001akr.2_Silent_p.A135A|TP73_uc009vlk.1_Silent_p.A135A|TP73_uc001aks.2_Silent_p.A135A|TP73_uc010nzk.1_Silent_p.A113A	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	184	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACAAGAAAGCGGAGCACGTGA	0.637												
CHD5	26038	broad.mit.edu	37	1	6203990	6203990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:6203990C>A	uc001amb.1	-	13	2036	c.1936G>T	c.(1936-1938)GAG>TAG	p.E646*	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	646	Chromo 2.				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)		AGCATCAGCTCCCTGGGAAAC	0.647												
PRAMEF2	65122	broad.mit.edu	37	1	12920127	12920127	+	Splice_Site	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:12920127G>A	uc001aum.1	+	3	953	c.866_splice	c.e3+1	p.R289_splice		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2												0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGATCAGGTGAGAAAGGA	0.478												
CELA2B	51032	broad.mit.edu	37	1	15813917	15813917	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15813917C>T	uc001awl.2	+	7	802	c.777C>T	c.(775-777)AAC>AAT	p.N259N		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	259	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CCAACTACAACGACTGGATCA	0.607												
DNAJC16	23341	broad.mit.edu	37	1	15890807	15890807	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15890807T>C	uc001aws.2	+	11	1671	c.1551T>C	c.(1549-1551)GCT>GCC	p.A517A	DNAJC16_uc001awr.1_Silent_p.A517A|DNAJC16_uc001awt.2_Silent_p.A205A|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	517	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCTACTCTGCTTCTGACTACA	0.433												
RSC1A1	6248	broad.mit.edu	37	1	15986909	15986909	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15986909A>G	uc010obn.1	+	1	546	c.546A>G	c.(544-546)AAA>AAG	p.K182K		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	182					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAACAAAAAGCTTCACATG	0.423												
SPATA21	374955	broad.mit.edu	37	1	16725286	16725286	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:16725286T>C	uc001ayn.2	-	13	1867	c.1384A>G	c.(1384-1386)AGC>GGC	p.S462G	SPATA21_uc001ayl.1_Intron|SPATA21_uc010occ.1_Missense_Mutation_p.S439G	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	462							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCACAGAGCTGAGCCACTTT	0.592												
E2F2	1870	broad.mit.edu	37	1	23836471	23836471	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:23836471T>C	uc001bhe.1	-	7	1643	c.1215A>G	c.(1213-1215)CCA>CCG	p.P405P		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	405	Transactivation (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGTCCAAGGATGGGGAGAAGC	0.612												
TCEB3	6924	broad.mit.edu	37	1	24083515	24083515	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24083515T>C	uc001bho.2	+	10	2295	c.2235T>C	c.(2233-2235)CCT>CCC	p.P745P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	745					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCCCAGCCCTGAGGAGCCGG	0.577												
GALE	2582	broad.mit.edu	37	1	24125170	24125170	+	Missense_Mutation	SNP	G	G	A	rs142821993	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24125170G>A	uc009vqo.1	-	3	382	c.172C>T	c.(172-174)CGC>TGC	p.R58C	GALE_uc001bhv.1_Missense_Mutation_p.R58C|GALE_uc001bhw.1_Missense_Mutation_p.R58C|GALE_uc001bhx.1_Missense_Mutation_p.R58C|GALE_uc009vqp.1_Missense_Mutation_p.R58C|GALE_uc001bhy.1_Missense_Mutation_p.R58C|GALE_uc001bhz.1_5'UTR|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_Missense_Mutation_p.R58C	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	58					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCACAGAGCGGCCTGTCAGC	0.517												
MYOM3	127294	broad.mit.edu	37	1	24408528	24408528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24408528G>A	uc001bin.3	-	18	2406	c.2243C>T	c.(2242-2244)GCG>GTG	p.A748V	MYOM3_uc001bim.3_Missense_Mutation_p.A405V|MYOM3_uc001bio.2_Missense_Mutation_p.A748V|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	748	Fibronectin type-III 4.									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)		CTGATTGACCGCATGCCAGTC	0.602												
PDIK1L	149420	broad.mit.edu	37	1	26448694	26448694	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:26448694G>T	uc010oew.1	+	3	925	c.652G>T	c.(652-654)GCA>TCA	p.A218S	PDIK1L_uc001blj.3_Missense_Mutation_p.A218S|PDIK1L_uc009vsb.2_Missense_Mutation_p.A218S	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	218	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity				0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTCCACAGCATGTGGAAC	0.443												
CCDC21	64793	broad.mit.edu	37	1	26582097	26582097	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:26582097G>A	uc001bls.1	+	4	775	c.644G>A	c.(643-645)AGT>AAT	p.S215N	CCDC21_uc001blr.2_Missense_Mutation_p.S215N|CCDC21_uc010ofa.1_Missense_Mutation_p.S164N	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	215						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|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;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCACAAGTAAGGAGTTG	0.532												
ADC	113451	broad.mit.edu	37	1	33585749	33585749	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:33585749T>C	uc001bwr.2	+	12	1936	c.1349T>C	c.(1348-1350)GTG>GCG	p.V450A	ADC_uc001bws.2_Missense_Mutation_p.V450A|ADC_uc009vue.2_Missense_Mutation_p.V450A|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.2_Missense_Mutation_p.V355A|ADC_uc001bwv.2_Missense_Mutation_p.V355A|ADC_uc001bww.2_Missense_Mutation_p.V355A|ADC_uc001bwx.1_3'UTR|ADC_uc009vug.2_Missense_Mutation_p.V470A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	450					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ACCCTGTGCGTGGGCCCTGTC	0.637												
PHC2	1912	broad.mit.edu	37	1	33841025	33841025	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:33841025C>T	uc001bxg.1	-	1	170	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PHC2_uc001bxh.1_Missense_Mutation_p.R39H|PHC2_uc009vuh.1_Missense_Mutation_p.R39H|PHC2_uc001bxi.1_Missense_Mutation_p.R39H	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	39					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGTGGGgcggccacttcc	0.333												
CSMD2	114784	broad.mit.edu	37	1	34006749	34006749	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:34006749T>C	uc001bxn.1	-	58	9035	c.9006A>G	c.(9004-9006)GGA>GGG	p.G3002G	CSMD2_uc001bxm.1_Silent_p.G3146G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3002	Extracellular (Potential).|Sushi 22.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGCTTGGTTCCATTCCATG	0.488												
BMP8B	656	broad.mit.edu	37	1	40230378	40230378	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:40230378G>T	uc001cdz.1	-	4	1161	c.785C>A	c.(784-786)CCT>CAT	p.P262H	BMP8B_uc001cea.1_Missense_Mutation_p.P287H	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	262					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACTGCCCGAGGGGTGCGGAT	0.662												
PTPRF	5792	broad.mit.edu	37	1	44064544	44064544	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:44064544G>A	uc001cjr.2	+	13	2613	c.2273G>A	c.(2272-2274)GGA>GAA	p.G758E	PTPRF_uc001cjs.2_Missense_Mutation_p.G758E|PTPRF_uc001cju.2_Missense_Mutation_p.G329E|PTPRF_uc009vwt.2_Missense_Mutation_p.G329E|PTPRF_uc001cjv.2_Missense_Mutation_p.G227E|PTPRF_uc001cjw.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	758	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCCCCGTGGACTCCCCATC	0.632												
DMAP1	55929	broad.mit.edu	37	1	44684086	44684086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:44684086G>A	uc001clq.1	+	5	577	c.497G>A	c.(496-498)CGC>CAC	p.R166H	DMAP1_uc010okt.1_Missense_Mutation_p.A205T|DMAP1_uc001clr.1_Missense_Mutation_p.R166H|DMAP1_uc001cls.1_Missense_Mutation_p.R166H|DMAP1_uc010oku.1_Missense_Mutation_p.R156H	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	166	SANT.				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CTCAGCCGCCGCTTTGACCTG	0.527											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA0494	9813	broad.mit.edu	37	1	47149030	47149030	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:47149030T>C	uc001cqk.3	-	10	2231	c.1254A>G	c.(1252-1254)CCA>CCG	p.P418P	KIAA0494_uc010omh.1_Silent_p.P354P|KIAA0494_uc010omj.1_Silent_p.P210P	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	418							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCAACTGGGTCTCCAA	0.388												
FGGY	55277	broad.mit.edu	37	1	59811947	59811947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:59811947G>A	uc001czi.3	+	4	554	c.342G>A	c.(340-342)TGG>TGA	p.W114*	FGGY_uc001czg.2_Nonsense_Mutation_p.W2*|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Nonsense_Mutation_p.W114*|FGGY_uc001czj.3_Nonsense_Mutation_p.W114*|FGGY_uc001czk.3_Nonsense_Mutation_p.W2*|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	114					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TCATCATGTGGCTGGACCATC	0.502												
KANK4	163782	broad.mit.edu	37	1	62718875	62718875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:62718875C>T	uc001dah.3	-	8	2923	c.2546G>A	c.(2545-2547)TGC>TAC	p.C849Y	KANK4_uc001dai.3_Missense_Mutation_p.C221Y|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Missense_Mutation_p.C205Y	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	849	ANK 1.									ovary(3)|skin(2)|lung(1)	6						GTCCACATTGCAGACGCCTGC	0.542												
TTLL7	79739	broad.mit.edu	37	1	84373183	84373183	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:84373183G>T	uc001djc.2	-	16	2344	c.1948C>A	c.(1948-1950)CAT>AAT	p.H650N	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	650					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGAGGCAGATGCCTCATGTAG	0.483												
MCOLN2	255231	broad.mit.edu	37	1	85424271	85424271	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:85424271T>G	uc001dkm.2	-	3	593	c.352A>C	c.(352-354)AGC>CGC	p.S118R	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	118						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACACTGCAGCTGTAGTCATCT	0.358												
GBP2	2634	broad.mit.edu	37	1	89586917	89586917	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:89586917T>C	uc001dmz.1	-	3	498	c.227A>G	c.(226-228)AAG>AGG	p.K76R	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	76					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCAGATTCCCTTGGTGTGAGA	0.453												
GLMN	11146	broad.mit.edu	37	1	92754658	92754658	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:92754658T>C	uc001dor.2	-	6	560	c.445A>G	c.(445-447)ACC>GCC	p.T149A	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.T149A	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	149					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCCAAAGGGTAGACAATGCT	0.378									Multiple_Glomus_Tumors_(of_the_Skin)_Familial			
VCAM1	7412	broad.mit.edu	37	1	101186193	101186193	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:101186193A>G	uc001dti.2	+	2	346	c.226A>G	c.(226-228)ACC>GCC	p.T76A	VCAM1_uc001dtj.2_Missense_Mutation_p.T76A|VCAM1_uc010ouj.1_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	76	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAATGAGGGGACCACATCTAC	0.463												
C1orf103	55791	broad.mit.edu	37	1	111494604	111494604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:111494604G>A	uc001eaa.2	-	2	1158	c.902C>T	c.(901-903)ACG>ATG	p.T301M	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		AAGAGATGGCGTAAAAGGCTG	0.343												
MOV10	4343	broad.mit.edu	37	1	113237103	113237103	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:113237103A>G	uc001eck.2	+	9	1594	c.1324A>G	c.(1324-1326)ACC>GCC	p.T442A	MOV10_uc001ecl.2_Missense_Mutation_p.T442A|MOV10_uc001ecn.2_Missense_Mutation_p.T442A|MOV10_uc001ecm.2_Missense_Mutation_p.T382A|MOV10_uc009wgj.1_Missense_Mutation_p.T382A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	442					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGATGGGCTGACCTTCAAGGT	0.597												
PPM1J	333926	broad.mit.edu	37	1	113253964	113253964	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:113253964G>T	uc001ect.1	-	6	997	c.970C>A	c.(970-972)CTT>ATT	p.L324I	PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.L118I	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	protein phosphatase 1J (PP2C domain containing)	324	PP2C-like.									breast(2)|central_nervous_system(1)	3	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAACTCAAGGTGGGTGAAT	0.582												
OTUD7B	56957	broad.mit.edu	37	1	149916793	149916793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:149916793C>T	uc001etn.2	-	12	1851	c.1495G>A	c.(1495-1497)GCA>ACA	p.A499T		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	499					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACAGAATCTGCTCTCTTCTTG	0.552												
ZNF687	57592	broad.mit.edu	37	1	151259991	151259991	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:151259991C>T	uc001exq.2	+	2	1322	c.1224C>T	c.(1222-1224)AAC>AAT	p.N408N	ZNF687_uc001exp.1_Silent_p.N417N|ZNF687_uc009wmo.2_Silent_p.N408N|ZNF687_uc009wmp.2_Silent_p.N408N	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCATCCAGAACGCCAGTACTG	0.582												
TCHH	7062	broad.mit.edu	37	1	152082434	152082434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:152082434G>A	uc001ezp.2	-	2	3259	c.3259C>T	c.(3259-3261)CAG>TAG	p.Q1087*	TCHH_uc009wne.1_Nonsense_Mutation_p.Q1087*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctgctgcagctcctct	0.174												
HRNR	388697	broad.mit.edu	37	1	152188549	152188549	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:152188549G>A	uc001ezt.1	-	3	5632	c.5556C>T	c.(5554-5556)TCC>TCT	p.S1852S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1852	20.				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)			AAGACCAACCGGAGCCAGACC	0.597												
KCNN3	3782	broad.mit.edu	37	1	154698452	154698452	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:154698452T>A	uc001ffp.2	-	5	1955	c.1641A>T	c.(1639-1641)GAA>GAT	p.E547D	KCNN3_uc001ffo.2_Missense_Mutation_p.E242D	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	552						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CTTTGGTGAGTTCCAGCTTTC	0.547												
THBS3	7059	broad.mit.edu	37	1	155168382	155168382	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155168382C>A	uc001fix.2	-	17	1915	c.1892G>T	c.(1891-1893)GGG>GTG	p.G631V	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.G622V|THBS3_uc001fiz.2_Missense_Mutation_p.G594V|THBS3_uc001fiy.2_Missense_Mutation_p.G160V|THBS3_uc010pfu.1_Missense_Mutation_p.G511V|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	631	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTGATGCCCATCCCCATC	0.512												
HCN3	57657	broad.mit.edu	37	1	155255714	155255714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155255714G>A	uc001fjz.1	+	6	1444	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.G174D	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	479	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGCCCGCGGCGCCCGGGAC	0.647												
HCN3	57657	broad.mit.edu	37	1	155257084	155257084	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155257084G>A	uc001fjz.1	+	7	1606	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R228H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	533	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCATGATGCGCCGGGCCTTT	0.617												
FCRL4	83417	broad.mit.edu	37	1	157557696	157557696	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:157557696T>C	uc001fqw.2	-	4	657	c.521A>G	c.(520-522)AAT>AGT	p.N174S	FCRL4_uc010phy.1_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	174	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAATACATCATTCTCGTCTCC	0.318												
CD5L	922	broad.mit.edu	37	1	157805724	157805724	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:157805724A>G	uc001frk.3	-	3	420	c.277T>C	c.(277-279)TCA>CCA	p.S93P		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	93	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAACTGACTGATTGGATGAGG	0.493												
OR10T2	128360	broad.mit.edu	37	1	158368769	158368769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:158368769A>G	uc010pih.1	-	1	488	c.488T>C	c.(487-489)CTC>CCC	p.L163P		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTCACAAATGAGGTTGGTGGC	0.468												
OR10T2	128360	broad.mit.edu	37	1	158368995	158368995	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:158368995A>G	uc010pih.1	-	1	262	c.262T>C	c.(262-264)TCA>CCA	p.S88P		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TTGGTGTCTGAGAGCAGGTGG	0.498												
DARC	2532	broad.mit.edu	37	1	159176186	159176186	+	Silent	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:159176186G>T	uc001fto.2	+	2	1197	c.957G>T	c.(955-957)CTG>CTT	p.L319L	DARC_uc001ftp.3_Silent_p.L321L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	319	Cytoplasmic (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					TGCCCTCTCTGCCCCTCCCTG	0.557												
FMO4	2329	broad.mit.edu	37	1	171310826	171310826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:171310826G>A	uc001gho.2	+	10	1742	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	509					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCCAAGCCTGCCTCCATGTC	0.453												
TNN	63923	broad.mit.edu	37	1	175067511	175067511	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:175067511G>C	uc001gkl.1	+	9	2012	c.1899G>C	c.(1897-1899)GAG>GAC	p.E633D	TNN_uc010pmx.1_Missense_Mutation_p.E544D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	633	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGTGACAGAGAATATGGCCA	0.542												
FAM5B	57795	broad.mit.edu	37	1	177250122	177250122	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:177250122C>T	uc001glf.2	+	8	2122	c.1810C>T	c.(1810-1812)CCT>TCT	p.P604S	FAM5B_uc001glg.2_Missense_Mutation_p.P499S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	604						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTGGTTCATGCCTGTGAATGA	0.552												
CACNA1E	777	broad.mit.edu	37	1	181680124	181680124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:181680124C>T	uc001gow.2	+	8	1255	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	CACNA1E_uc009wxs.2_Nonsense_Mutation_p.R271*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	364	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGTGGAGAACCGAAGGGCTTT	0.537												
PRG4	10216	broad.mit.edu	37	1	186276875	186276875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:186276875A>G	uc001gru.3	+	7	2075	c.2024A>G	c.(2023-2025)AAC>AGC	p.N675S	PRG4_uc001grt.3_Missense_Mutation_p.N634S|PRG4_uc009wyl.2_Missense_Mutation_p.N582S|PRG4_uc009wym.2_Missense_Mutation_p.N541S|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	675	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GCGGCTCCCAACACCCCTAAG	0.642												
PTPRC	5788	broad.mit.edu	37	1	198711490	198711490	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:198711490A>G	uc001gur.1	+	25	2865	c.2685A>G	c.(2683-2685)CAA>CAG	p.Q895Q	PTPRC_uc001gus.1_Silent_p.Q847Q|PTPRC_uc001gut.1_Silent_p.Q734Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363												
FMOD	2331	broad.mit.edu	37	1	203316677	203316677	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:203316677C>A	uc001gzr.2	-	2	858	c.722G>T	c.(721-723)GGG>GTG	p.G241V	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	241	LRR 6.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGAGGGCAGCCCATCAGGCAC	0.572												
GOLT1A	127845	broad.mit.edu	37	1	204168355	204168355	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:204168355C>A	uc001has.1	-	4	514	c.328G>T	c.(328-330)GGC>TGC	p.G110C	KISS1_uc001har.2_5'Flank|GOLT1A_uc001hat.1_Missense_Mutation_p.G110C	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	golgi transport 1 homolog A	110	Helical; Name=4; (Potential).				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane					0	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGACATTGCCCAGGAAGCCG	0.632												
LRRN2	10446	broad.mit.edu	37	1	204588803	204588803	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:204588803C>T	uc001hbe.1	-	3	706	c.318G>A	c.(316-318)TCG>TCA	p.S106S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S106S|LRRN2_uc009xbf.1_Silent_p.S106S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	106	LRR 2.|Extracellular (Potential).				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)			CTCGGGCATCCGAAAAGCTGT	0.607												
TMCC2	9911	broad.mit.edu	37	1	205238824	205238824	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:205238824T>G	uc001hbz.1	+	4	1938	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	TMCC2_uc010prf.1_Silent_p.G420G|TMCC2_uc001hca.2_Silent_p.G273G|TMCC2_uc001hcb.1_Silent_p.G258G|TMCC2_uc001hcc.1_Silent_p.G119G|TMCC2_uc001hcd.2_Silent_p.G265G	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	498						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGGGCCTGGTGGGGCGCTGG	0.632												
TMCC2	9911	broad.mit.edu	37	1	205241213	205241213	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:205241213C>T	uc001hbz.1	+	6	2535	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	TMCC2_uc010prf.1_Silent_p.S619S|TMCC2_uc001hca.2_Silent_p.S472S|TMCC2_uc001hcb.1_Silent_p.S457S|TMCC2_uc001hcc.1_Silent_p.S318S|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	697	Helical; (Potential).					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACTGGGACTCCCTCACCTACC	0.632												
CR1	1378	broad.mit.edu	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:207787831G>T	uc001hfy.2	+	32	5448	c.5308G>T	c.(5308-5310)GAA>TAA	p.E1770*	CR1_uc001hfx.2_Nonsense_Mutation_p.E2220*	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1770	Extracellular (Potential).|Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCCAGTGTGTGAACGTGAGTA	0.408												
CENPF	1063	broad.mit.edu	37	1	214832209	214832209	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:214832209G>A	uc001hkm.2	+	19	9153	c.8979G>A	c.(8977-8979)CCG>CCA	p.P2993P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	3089	Sufficient for nuclear localization.|Sufficient for centromere localization.				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)		CTGACATCCCGACAGGAAAGA	0.478											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USH2A	7399	broad.mit.edu	37	1	215916618	215916618	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:215916618T>G	uc001hku.1	-	59	11836	c.11449A>C	c.(11449-11451)ACA>CCA	p.T3817P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3817	Fibronectin type-III 23.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAGAGGTGTTACACTTCCA	0.408										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216595572	216595572	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:216595572A>C	uc001hku.1	-	2	494	c.107T>G	c.(106-108)CTT>CGT	p.L36R	USH2A_uc001hkv.2_Missense_Mutation_p.L36R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	36	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTGGGAAAAGACCTCGTGA	0.468										HNSCC(13;0.011)		
LEFTY2	7044	broad.mit.edu	37	1	226125285	226125285	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:226125285C>T	uc001hpt.1	-	4	1037	c.957G>A	c.(955-957)TCG>TCA	p.S319S	LEFTY2_uc010pvk.1_Silent_p.S285S|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	319					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					AGGCAGTCTCCGAGGCGATAC	0.647												
CABC1	56997	broad.mit.edu	37	1	227174190	227174190	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:227174190C>A	uc001hqm.1	+	20	5115	c.1696C>A	c.(1696-1698)CTG>ATG	p.L566M	CABC1_uc001hqn.1_Missense_Mutation_p.L566M|CABC1_uc009xeq.1_Missense_Mutation_p.L514M|CABC1_uc010pvq.1_Missense_Mutation_p.L287M|CABC1_uc010pvr.1_Missense_Mutation_p.L240M|CABC1_uc001hqo.1_Missense_Mutation_p.L287M|CABC1_uc009xer.1_Missense_Mutation_p.L82M	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	566					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CATCCTCATCCTGGGGGAGGC	0.587												
JMJD4	65094	broad.mit.edu	37	1	227920624	227920624	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:227920624G>A	uc001hrb.2	-	5	1065	c.1065C>T	c.(1063-1065)AGC>AGT	p.S355S	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Intron	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	355											0		Prostate(94;0.0885)				CCCTCCACTCGCTGACCTCCT	0.612												
LYST	1130	broad.mit.edu	37	1	235914579	235914579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:235914579G>A	uc001hxj.2	-	28	7886	c.7711C>T	c.(7711-7713)CTC>TTC	p.L2571F	LYST_uc009xga.1_Missense_Mutation_p.L153F	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2571					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAATCTGTGAGGTTTTCAGAG	0.413									Chediak-Higashi_syndrome			
OR2L3	391192	broad.mit.edu	37	1	248224181	248224181	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248224181C>A	uc001idx.1	+	1	198	c.198C>A	c.(196-198)TCC>TCA	p.S66S	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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;0.0278)			GTCAGCTCTCCCTCATTGACC	0.423												
OR2L13	284521	broad.mit.edu	37	1	248263381	248263381	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248263381A>G	uc001ids.2	+	3	1041	c.704A>G	c.(703-705)AAG>AGG	p.K235R		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|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;0.0132)			GGGAGAAAAAAGGCCTTCACC	0.453												
C10orf18	54906	broad.mit.edu	37	10	5789072	5789072	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:5789072A>G	uc001iij.2	+	15	4313	c.3688A>G	c.(3688-3690)ACA>GCA	p.T1230A	C10orf18_uc001iik.2_Missense_Mutation_p.T74A	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1230										ovary(1)|central_nervous_system(1)	2						AGGATGCCACACATCAGGTGA	0.418												
UPF2	26019	broad.mit.edu	37	10	12070793	12070793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:12070793G>A	uc001ila.2	-	2	1570	c.1096C>T	c.(1096-1098)CAC>TAC	p.H366Y	UPF2_uc001ilb.2_Missense_Mutation_p.H366Y|UPF2_uc001ilc.2_Missense_Mutation_p.H366Y|UPF2_uc009xiz.1_Missense_Mutation_p.H366Y	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	366	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CTTTTCAGGTGTTTGGTCAAA	0.378												
NEBL	10529	broad.mit.edu	37	10	21074772	21074772	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:21074772G>A	uc001iqi.2	-	28	3346	c.2949C>T	c.(2947-2949)AAC>AAT	p.N983N	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.N239N	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	983	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TAGGCTGCACGTTGACGATGT	0.483												
ARMC4	55130	broad.mit.edu	37	10	28274045	28274045	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:28274045C>G	uc009xky.2	-	4	576	c.478G>C	c.(478-480)GAT>CAT	p.D160H	ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.D160H	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	160							binding			ovary(4)|skin(2)	6						GGATCATCATCTCTGGTAATT	0.353												
ERCC6	2074	broad.mit.edu	37	10	50686483	50686483	+	Nonsense_Mutation	SNP	G	G	A	rs121917901		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:50686483G>A	uc001jhs.3	-	11	2357	c.2203C>T	c.(2203-2205)CGA>TGA	p.R735*	ERCC6_uc009xod.2_5'Flank|ERCC6_uc010qgr.1_Nonsense_Mutation_p.R105*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.R135*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	735					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						ATGGTATCTCGTAAGACACAT	0.388								Direct_reversal_of_damage|NER				
PCDH15	65217	broad.mit.edu	37	10	55581859	55581859	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:55581859T>C	uc001jju.1	-	33	6022	c.5627A>G	c.(5626-5628)CAG>CGG	p.Q1876R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730R|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873R|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836R|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807R|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883R|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878R|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856R|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTTCTCTCTGAGGGTCTGT	0.393										HNSCC(58;0.16)		
PCDH15	65217	broad.mit.edu	37	10	55721625	55721625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:55721625T>C	uc001jju.1	-	22	3291	c.2896A>G	c.(2896-2898)AGA>GGA	p.R966G	PCDH15_uc010qhq.1_Missense_Mutation_p.R971G|PCDH15_uc010qhr.1_Missense_Mutation_p.R966G|PCDH15_uc010qhs.1_Missense_Mutation_p.R978G|PCDH15_uc010qht.1_Missense_Mutation_p.R973G|PCDH15_uc010qhu.1_Missense_Mutation_p.R966G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R966G|PCDH15_uc010qhw.1_Missense_Mutation_p.R929G|PCDH15_uc010qhx.1_Missense_Mutation_p.R895G|PCDH15_uc010qhy.1_Missense_Mutation_p.R971G|PCDH15_uc010qhz.1_Missense_Mutation_p.R966G|PCDH15_uc010qia.1_Missense_Mutation_p.R944G|PCDH15_uc010qib.1_Missense_Mutation_p.R944G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	966	Extracellular (Potential).|Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATCTACTCTATACCTCACA	0.328										HNSCC(58;0.16)		
CTNNA3	29119	broad.mit.edu	37	10	68940246	68940246	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:68940246A>G	uc009xpn.1	-	7	999	c.876T>C	c.(874-876)ACT>ACC	p.T292T	CTNNA3_uc001jmw.2_Silent_p.T292T|CTNNA3_uc001jmx.3_Silent_p.T292T|CTNNA3_uc009xpo.1_Silent_p.T152T|CTNNA3_uc001jna.2_Silent_p.T304T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	292					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTTCCTCCTCAGTTACTGTGA	0.423												
ADAMTS14	140766	broad.mit.edu	37	10	72489928	72489928	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:72489928A>G	uc001jrh.2	+	6	1025	c.1025A>G	c.(1024-1026)CAG>CGG	p.Q342R	ADAMTS14_uc001jrg.2_Missense_Mutation_p.Q342R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	342	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCACACTCCCAGCAGCGCCAG	0.647												
TTC18	118491	broad.mit.edu	37	10	75113397	75113397	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:75113397G>C	uc009xrc.2	-	3	288	c.167C>G	c.(166-168)GCA>GGA	p.A56G	TTC18_uc001jty.2_Missense_Mutation_p.A56G|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	56							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					GTTGTATTTTGCACTTCCTTC	0.408												
PTEN	5728	broad.mit.edu	37	10	89624305	89624305	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:89624305T>G	uc001kfb.2	+	2	1110	c.79T>G	c.(79-81)TAT>GAT	p.Y27D	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.Y27fs*1(3)|p.Y27C(2)|p.Y27_N212>Y(2)|p.Y27S(1)|p.Y27fs*16(1)|p.Y27N(1)|p.Y27*(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGACCTGTATCCATTT	0.463		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
DNMBP	23268	broad.mit.edu	37	10	101731839	101731839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:101731839G>A	uc001kqj.2	-	2	135	c.43C>T	c.(43-45)CCT>TCT	p.P15S		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	15	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATACGCTAGGGCAGAAGTCA	0.423												
SCD	6319	broad.mit.edu	37	10	102120550	102120550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:102120550C>T	uc001kqy.2	+	6	1430	c.940C>T	c.(940-942)CGC>TGC	p.R314C		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	314	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CAGTGAGTACCGCTGGCACAT	0.527												
SFXN2	118980	broad.mit.edu	37	10	104489523	104489523	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:104489523T>C	uc001kwb.2	+	6	717	c.551T>C	c.(550-552)GTG>GCG	p.V184A	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	184	Helical; (Potential).			QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 2).	iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTTGCCGCTGTGGCTGCGGCT	0.557											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDCD11	22984	broad.mit.edu	37	10	105174906	105174906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:105174906C>T	uc001kwy.1	+	12	1603	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	506	S1 motif 5.				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)		GGTCAAGTGCCGGGTGAGCCT	0.527												
COL17A1	1308	broad.mit.edu	37	10	105823514	105823514	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:105823514A>G	uc001kxr.2	-	11	998	c.829T>C	c.(829-831)TCC>CCC	p.S277P	COL17A1_uc010qqv.1_Missense_Mutation_p.S261P|COL17A1_uc009xxp.1_Missense_Mutation_p.S277P	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	277	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGAGGAGGATGTGCTGAGT	0.522												
TCF7L2	6934	broad.mit.edu	37	10	114925501	114925501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:114925501G>A	uc001lae.3	+	14	2086	c.1579G>A	c.(1579-1581)GCC>ACC	p.A527T	TCF7L2_uc001lac.3_Missense_Mutation_p.A521T|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Missense_Mutation_p.A504T|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Missense_Mutation_p.A504T|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.A459T|TCF7L2_uc010qrs.1_Missense_Mutation_p.A415T|TCF7L2_uc010qrt.1_Missense_Mutation_p.A415T|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	544					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CGACCCCCTGGCCCACCTGTC	0.706												
GFRA1	2674	broad.mit.edu	37	10	118030461	118030461	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:118030461C>A	uc001lcj.2	-	3	905	c.207G>T	c.(205-207)AAG>AAT	p.K69N	GFRA1_uc001lci.2_Missense_Mutation_p.K69N|GFRA1_uc009xyr.2_Missense_Mutation_p.K69N	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	69	1.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCACTCATCCTTGGCCTCCA	0.612												
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:120353797G>A	uc001ldp.1	-	2	1099	c.960C>T	c.(958-960)TGC>TGT	p.C320C		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	320	Helical; Name=7; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647												
SFXN4	119559	broad.mit.edu	37	10	120925115	120925115	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:120925115T>G	uc001leb.2	-	1	90	c.45A>C	c.(43-45)CTA>CTC	p.L15L	SFXN4_uc001ldz.2_5'Flank|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	15					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CTCTGCGTCCTAGGAGCCGCC	0.532												
TACC2	10579	broad.mit.edu	37	10	123844834	123844834	+	Missense_Mutation	SNP	A	A	C	rs140606887	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:123844834A>C	uc001lfv.2	+	4	3179	c.2819A>C	c.(2818-2820)AAG>ACG	p.K940T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.K940T|TACC2_uc010qtv.1_Missense_Mutation_p.K940T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	940						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGAGACAGAAGTTGCCTGCA	0.522												
TACC2	10579	broad.mit.edu	37	10	123903103	123903103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:123903103G>A	uc001lfv.2	+	7	6076	c.5716G>A	c.(5716-5718)GCC>ACC	p.A1906T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1906						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCAGCTGCTGCCCATGCGGG	0.572											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DOCK1	1793	broad.mit.edu	37	10	129172450	129172450	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129172450A>C	uc001ljt.2	+	35	3648	c.3584A>C	c.(3583-3585)AAC>ACC	p.N1195T	DOCK1_uc010qun.1_Missense_Mutation_p.N1216T|DOCK1_uc009yaq.2_Missense_Mutation_p.N190T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1195	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACAAAGAAAACCGCATGAGC	0.453												
MKI67	4288	broad.mit.edu	37	10	129905499	129905499	+	Silent	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129905499G>C	uc001lke.2	-	13	4800	c.4605C>G	c.(4603-4605)GGC>GGG	p.G1535G	MKI67_uc001lkf.2_Silent_p.G1175G|MKI67_uc009yav.1_Silent_p.G1110G|MKI67_uc009yaw.1_Silent_p.G685G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1535	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCATGGCTTTGCCTGCTGATG	0.473												
MKI67	4288	broad.mit.edu	37	10	129905503	129905503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129905503G>A	uc001lke.2	-	13	4796	c.4601C>T	c.(4600-4602)GCA>GTA	p.A1534V	MKI67_uc001lkf.2_Missense_Mutation_p.A1174V|MKI67_uc009yav.1_Missense_Mutation_p.A1109V|MKI67_uc009yaw.1_Missense_Mutation_p.A684V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1534	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTTTGCCTGCTGATGGTGT	0.488												
DPYSL4	10570	broad.mit.edu	37	10	134014458	134014458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:134014458C>T	uc009ybb.2	+	10	1235	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	361					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATTGAGGAGCGCATGTCGAT	0.647												
TRPM5	29850	broad.mit.edu	37	11	2438983	2438983	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:2438983G>A	uc001lwm.3	-	7	992	c.983C>T	c.(982-984)ACG>ATG	p.T328M	TRPM5_uc010qxl.1_Missense_Mutation_p.T328M|TRPM5_uc009ydn.2_Missense_Mutation_p.T330M	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	328	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGATGACCGTGTCCAGCTC	0.632												
UBQLN3	50613	broad.mit.edu	37	11	5528836	5528836	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:5528836C>T	uc001may.1	-	2	2039	c.1953G>A	c.(1951-1953)AAG>AAA	p.K651K	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	651	UBA.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTCTCAGCTTCTCCACAG	0.507												
CTR9	9646	broad.mit.edu	37	11	10785739	10785739	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:10785739T>C	uc001mja.2	+	10	1424	c.1275T>C	c.(1273-1275)ACT>ACC	p.T425T		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	425	TPR 8.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TAGAACAGACTGATATACAGG	0.368												
MICALCL	84953	broad.mit.edu	37	11	12315225	12315225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:12315225C>T	uc001mkg.1	+	3	538	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	83	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CCTGTATCTGCCTCATCACCC	0.587												
CHST1	8534	broad.mit.edu	37	11	45671618	45671618	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:45671618C>A	uc001mys.1	-	4	1527	c.856G>T	c.(856-858)GGC>TGC	p.G286C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	286	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCATGAGGCCGGTGGACACG	0.622												
HARBI1	283254	broad.mit.edu	37	11	46625165	46625165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:46625165G>A	uc001ncy.2	-	3	1213	c.965C>T	c.(964-966)CCG>CTG	p.P322L		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	322						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTCCTCTTCCGGGGGCTGTTC	0.512												
LRP4	4038	broad.mit.edu	37	11	46910972	46910972	+	Silent	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:46910972G>T	uc001ndn.3	-	16	2351	c.2205C>A	c.(2203-2205)GCC>GCA	p.A735A		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	735	Extracellular (Potential).|EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCTGGGCACAGGCGTGGCTGC	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4C16	219428	broad.mit.edu	37	11	55340531	55340531	+	Silent	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:55340531A>C	uc010rih.1	+	1	928	c.928A>C	c.(928-930)AGA>CGA	p.R310R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				AGATGACAAAAGATAAATGAA	0.333												
OR5D18	219438	broad.mit.edu	37	11	55587286	55587286	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:55587286T>C	uc010rin.1	+	1	181	c.181T>C	c.(181-183)TAC>CAC	p.Y61H		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TACCCCCATGTACTTTTTCCT	0.433												
SLC43A1	8501	broad.mit.edu	37	11	57258808	57258808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:57258808G>A	uc001nkk.2	-	11	1200	c.1082C>T	c.(1081-1083)GCC>GTC	p.A361V	SLC43A1_uc001nkl.2_Missense_Mutation_p.A361V	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	361	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						CAGCTGCATGGCCCCGAAGAC	0.612												
INTS5	80789	broad.mit.edu	37	11	62416571	62416571	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:62416571G>A	uc001nud.2	-	2	1034	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	327					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCCACTGCGGCCTCCAGATC	0.617												
C11orf84	144097	broad.mit.edu	37	11	63585488	63585488	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:63585488G>T	uc001nxt.2	+	2	575	c.339G>T	c.(337-339)CAG>CAT	p.Q113H		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	113											0						TCTTGGAGCAGCACCCTCACA	0.642												
CDC42BPG	55561	broad.mit.edu	37	11	64606355	64606355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:64606355G>A	uc001obs.3	-	8	896	c.896C>T	c.(895-897)CCG>CTG	p.P299L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	299	Protein kinase.				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			lung(3)|central_nervous_system(1)	4						AGGCACGTCCGGGGGGAACTG	0.672												
PPP2R5B	5526	broad.mit.edu	37	11	64698015	64698015	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:64698015T>G	uc001oby.2	+	8	1430	c.845T>G	c.(844-846)CTG>CGG	p.L282R	PPP2R5B_uc001obz.2_Missense_Mutation_p.L282R	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	282					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GTTCGCGTCCTGATCCCCCTG	0.612												
EHBP1L1	254102	broad.mit.edu	37	11	65349384	65349384	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:65349384A>G	uc001oeo.3	+	9	1506	c.1241A>G	c.(1240-1242)GAG>GGG	p.E414G	EHBP1L1_uc001oep.1_Missense_Mutation_p.E34G	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	414										central_nervous_system(1)	1						AGAGCTGGGGAGGCTGAAGAG	0.567												
PCNXL3	399909	broad.mit.edu	37	11	65386142	65386142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:65386142C>T	uc001oey.2	+	6	1309	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	437	Ser-rich.					integral to membrane					0						CTCCAGTCTCCGATCGCAGCG	0.647												
TBX10	347853	broad.mit.edu	37	11	67400514	67400514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:67400514G>A	uc001omp.2	-	5	698	c.610C>T	c.(610-612)CGC>TGC	p.R204C		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	204	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGTCCTTGCGTGGGTCCACG	0.567												
ALDH3B1	221	broad.mit.edu	37	11	67789015	67789015	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:67789015C>T	uc010rpy.1	+	8	740	c.624C>T	c.(622-624)ACC>ACT	p.T208T	ALDH3B1_uc001omz.2_Silent_p.T208T|ALDH3B1_uc001ona.2_Silent_p.T171T|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	208					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CACCTGTCACCCTGGAGCTGG	0.632											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NUMA1	4926	broad.mit.edu	37	11	71733444	71733444	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:71733444G>T	uc001orl.1	-	7	485	c.313C>A	c.(313-315)CAC>AAC	p.H105N	NUMA1_uc001ork.1_Missense_Mutation_p.H105N|NUMA1_uc001orm.1_Missense_Mutation_p.H105N|NUMA1_uc009ysx.1_Missense_Mutation_p.H105N|NUMA1_uc001oro.1_Missense_Mutation_p.H105N|NUMA1_uc009ysy.1_Missense_Mutation_p.H105N|NUMA1_uc001orp.2_Missense_Mutation_p.H105N|NUMA1_uc001orq.2_Missense_Mutation_p.H105N	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	105					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						ATGGTAGAGTGGTATAAGAGC	0.532			T	RARA	APL							
FOLR2	2350	broad.mit.edu	37	11	71932697	71932697	+	Missense_Mutation	SNP	C	C	T	rs140546240		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:71932697C>T	uc009ytd.2	+	5	828	c.659C>T	c.(658-660)GCG>GTG	p.A220V	FOLR2_uc009yte.2_Missense_Mutation_p.A220V|FOLR2_uc001ose.3_Missense_Mutation_p.A220V|FOLR2_uc009ytf.2_Missense_Mutation_p.A220V	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	220					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	GAGGAAGTGGCGAGGTTCTAT	0.577												
CLPB	81570	broad.mit.edu	37	11	72006671	72006671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:72006671C>T	uc001osj.2	-	13	1491	c.1441G>A	c.(1441-1443)GGG>AGG	p.G481R	CLPB_uc010rqx.1_Missense_Mutation_p.G436R|CLPB_uc010rqy.1_Missense_Mutation_p.G422R|CLPB_uc001osk.2_Missense_Mutation_p.G451R|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.G280R|CLPB_uc001osi.2_Missense_Mutation_p.G89R	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	481					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ATGGTCTTCCCTTTTCCATCT	0.488												
MYO7A	4647	broad.mit.edu	37	11	76905421	76905421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:76905421C>T	uc001oyb.2	+	32	4447	c.4175C>T	c.(4174-4176)GCC>GTC	p.A1392V	MYO7A_uc010rsm.1_Missense_Mutation_p.A1381V|MYO7A_uc001oyc.2_Missense_Mutation_p.A1392V|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.A603V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1392	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						GCTGAGCTGGCCTCCCAGCAG	0.637												
ANKRD42	338699	broad.mit.edu	37	11	82951953	82951953	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:82951953A>C	uc001ozz.1	+	9	1510	c.1088A>C	c.(1087-1089)GAC>GCC	p.D363A	ANKRD42_uc010rsv.1_Missense_Mutation_p.D391A|ANKRD42_uc001paa.2_Missense_Mutation_p.D391A|ANKRD42_uc001pab.1_Missense_Mutation_p.D390A	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	363										skin(1)	1						TGTCTGAGTGACTTGGATAAA	0.353												
TYR	7299	broad.mit.edu	37	11	89028414	89028414	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:89028414C>A	uc001pcs.2	+	5	1552	c.1470C>A	c.(1468-1470)GCC>GCA	p.A490A		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	490	Helical; (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCTCACTGCCCTGCTGGCAG	0.532									Oculocutaneous_Albinism			
FAT3	120114	broad.mit.edu	37	11	92086551	92086551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:92086551C>T	uc001pdj.3	+	1	1290	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	425	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAATCCTCGGTCGGGTCT	0.408										TCGA Ovarian(4;0.039)		
CNTN5	53942	broad.mit.edu	37	11	100211320	100211320	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:100211320T>G	uc001pga.2	+	22	3195	c.2856T>G	c.(2854-2856)GCT>GCG	p.A952A	CNTN5_uc001pgb.2_Silent_p.A878A|CNTN5_uc010ruk.1_Silent_p.A223A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	952	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGAGGGCTTACAATGGAG	0.443												
DYNC2H1	79659	broad.mit.edu	37	11	102987326	102987326	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:102987326T>C	uc001pho.2	+	5	793	c.649T>C	c.(649-651)TTA>CTA	p.L217L	DYNC2H1_uc001phn.1_Silent_p.L217L|DYNC2H1_uc009yxe.1_Silent_p.L217L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	217	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGTCTATCCTTACTAGAAGT	0.338												
KIAA1826	84437	broad.mit.edu	37	11	105880317	105880317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:105880317C>T	uc001piy.2	-	3	1156	c.983G>A	c.(982-984)CGC>CAC	p.R328H	KIAA1826_uc001piz.2_Missense_Mutation_p.R328H	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	328	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TACCTGTAAGCGTTCCTTTTC	0.393												
KDELC2	143888	broad.mit.edu	37	11	108352801	108352801	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:108352801A>C	uc001pkj.2	-	4	899	c.833T>G	c.(832-834)ATC>AGC	p.I278S	KDELC2_uc001pki.2_Missense_Mutation_p.I222S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	278						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GGAGTGGGTGATGTCATACGT	0.448												
UBE4A	9354	broad.mit.edu	37	11	118244399	118244399	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:118244399A>G	uc001psw.2	+	8	1244	c.1115A>G	c.(1114-1116)CAG>CGG	p.Q372R	UBE4A_uc001psv.2_Missense_Mutation_p.Q379R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	372					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)		AACATCCATCAGGTGGAACTG	0.463												
MCAM	4162	broad.mit.edu	37	11	119185613	119185613	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:119185613G>A	uc001pwf.2	-	3	359	c.330C>T	c.(328-330)GAC>GAT	p.D110D		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	110	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGATGCGCTCGTCTTGGGGGG	0.657												
CRTAM	56253	broad.mit.edu	37	11	122720827	122720827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:122720827C>T	uc001pyj.2	+	2	98	c.98C>T	c.(97-99)ACG>ATG	p.T33M		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	33	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAAGGCCAGACGCTCACTCTA	0.527												
OR10G4	390264	broad.mit.edu	37	11	123887010	123887010	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:123887010C>T	uc010sac.1	+	1	729	c.729C>T	c.(727-729)CAC>CAT	p.H243H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCCTCCCACTGTATTGTGG	0.522												
WNK1	65125	broad.mit.edu	37	12	992220	992220	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:992220A>G	uc001qio.3	+	15	3991	c.3484A>G	c.(3484-3486)ATT>GTT	p.I1162V	WNK1_uc001qip.3_Missense_Mutation_p.I915V|WNK1_uc001qir.3_Missense_Mutation_p.I335V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1162					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GATAGCAACAATTATGGTACG	0.368												
KCNA6	3742	broad.mit.edu	37	12	4920572	4920572	+	Silent	SNP	C	C	T	rs140094246		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:4920572C>T	uc001qng.2	+	1	2231	c.1365C>T	c.(1363-1365)CCC>CCT	p.P455P		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	455	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TGCCTGTGCCCGTCATCGTCT	0.617										HNSCC(72;0.22)		
NCAPD2	9918	broad.mit.edu	37	12	6631158	6631158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:6631158G>A	uc001qoo.2	+	15	1955	c.1909G>A	c.(1909-1911)GCC>ACC	p.A637T	NCAPD2_uc009zen.1_Missense_Mutation_p.A509T|NCAPD2_uc010sfd.1_Missense_Mutation_p.A592T	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	637					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GATTACAGAGGCCATTGGCAT	0.458												
CLSTN3	9746	broad.mit.edu	37	12	7286179	7286179	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7286179C>T	uc001qsr.2	+	3	476	c.198C>T	c.(196-198)TGC>TGT	p.C66C	CLSTN3_uc001qss.2_Silent_p.C78C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	66	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GTGAGATCTGCGGCTTCCGGC	0.642												
CD163L1	283316	broad.mit.edu	37	12	7531738	7531738	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7531738G>T	uc001qsy.2	-	9	2233	c.2207C>A	c.(2206-2208)GCA>GAA	p.A736E	CD163L1_uc010sge.1_Missense_Mutation_p.A746E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	736	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GACCCTGATTGCAGACCCACA	0.488												
CLEC4D	338339	broad.mit.edu	37	12	8673741	8673741	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:8673741C>T	uc001qun.2	+	6	715	c.522C>T	c.(520-522)CCC>CCT	p.P174P		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	174	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					AGAATGAACCCGACAACTCTC	0.338												
TAS2R7	50837	broad.mit.edu	37	12	10954759	10954759	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:10954759G>A	uc001qyv.2	-	1	468	c.411C>T	c.(409-411)TGC>TGT	p.C137C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	137	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						AGAGAACCACGCACCCCAGTA	0.413												
PRB1	5542	broad.mit.edu	37	12	11506168	11506168	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:11506168T>C	uc001qzw.1	-	4	906	c.869A>G	c.(868-870)AAC>AGC	p.N290S	PRB1_uc001qzu.1_Missense_Mutation_p.N157S|PRB1_uc001qzv.1_Missense_Mutation_p.N137S	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	351	15.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGAGGATTGTTGCCTTCTTG	0.627												
ATF7IP	55729	broad.mit.edu	37	12	14628902	14628902	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:14628902G>T	uc001rbw.2	+	11	3099	c.2941G>T	c.(2941-2943)GAC>TAC	p.D981Y	ATF7IP_uc001rbu.2_Missense_Mutation_p.G981C|ATF7IP_uc001rbv.1_Missense_Mutation_p.D980Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D980Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D981Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D981Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	981					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AGCTTCACAAGGTACTTCAAT	0.363												
SLCO1B3	28234	broad.mit.edu	37	12	21033817	21033817	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:21033817G>C	uc001rek.2	+	11	1486	c.1360G>C	c.(1360-1362)GTA>CTA	p.V454L	SLCO1B3_uc001rel.2_Missense_Mutation_p.V454L|SLCO1B3_uc010sil.1_Missense_Mutation_p.V454L|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.V279L	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	454	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TCATGTAGATGTACCACTTTC	0.289												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
TMTC1	83857	broad.mit.edu	37	12	29669328	29669328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:29669328T>C	uc001rjb.2	-	15	2411	c.1937A>G	c.(1936-1938)TAT>TGT	p.Y646C	TMTC1_uc001riz.2_Missense_Mutation_p.Y403C|TMTC1_uc001rja.2_Missense_Mutation_p.Y490C|TMTC1_uc001riy.2_Missense_Mutation_p.Y99C	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	754	TPR 8.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAAGAGGCGATAGCATTCAAG	0.453												
CNTN1	1272	broad.mit.edu	37	12	41419075	41419075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:41419075G>A	uc001rmm.1	+	21	2760	c.2647G>A	c.(2647-2649)GCC>ACC	p.A883T	CNTN1_uc001rmn.1_Missense_Mutation_p.A872T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	883	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAGTCGGGGCCTGCAATAG	0.478												
SENP1	29843	broad.mit.edu	37	12	48440804	48440804	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:48440804T>G	uc001rqx.2	-	16	2179	c.1733A>C	c.(1732-1734)GAG>GCG	p.E578A	SENP1_uc001rqw.2_Missense_Mutation_p.E578A|SENP1_uc001rqy.2_Missense_Mutation_p.E379A|SENP1_uc001rqz.2_Missense_Mutation_p.E379A|SENP1_uc009zkx.2_Missense_Mutation_p.E578A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	578	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTGTCAAACTCTTTCCTTTT	0.423												
MLL2	8085	broad.mit.edu	37	12	49427944	49427944	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:49427944G>A	uc001rta.3	-	38	10646	c.10646C>T	c.(10645-10647)GCC>GTC	p.A3549V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3549	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCTTTTTTGGCAGTGCGCTG	0.552			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
GALNT6	11226	broad.mit.edu	37	12	51773084	51773084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:51773084C>T	uc001ryk.2	-	2	707	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.R161Q|GALNT6_uc010snh.1_Missense_Mutation_p.R161Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	161	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CTCAGGTGGTCGGGTGTCTGG	0.562												
KRT6A	3853	broad.mit.edu	37	12	52885323	52885323	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:52885323C>A	uc001sam.2	-	2	947	c.738G>T	c.(736-738)GTG>GTT	p.V246V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	246	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGTCCTCCACCAGGTCCT	0.542												
TENC1	23371	broad.mit.edu	37	12	53454525	53454525	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:53454525C>A	uc001sbp.2	+	20	2970	c.2835C>A	c.(2833-2835)GCC>GCA	p.A945A	TENC1_uc001sbl.2_Silent_p.A821A|TENC1_uc001sbn.2_Silent_p.A955A|TENC1_uc001sbq.2_Silent_p.A343A|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.A440A|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	945	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTGGCGAGGCCTTGCCCCCTG	0.677												
SLC39A5	283375	broad.mit.edu	37	12	56625312	56625312	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:56625312C>A	uc010sqj.1	+	4	511	c.254C>A	c.(253-255)GCT>GAT	p.A85D	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.A85D	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	85	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACTGGACGGGCTGCATCCCCA	0.642												
TIMELESS	8914	broad.mit.edu	37	12	56818681	56818681	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:56818681A>G	uc001slf.2	-	15	1901	c.1733T>C	c.(1732-1734)ATG>ACG	p.M578T		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	578					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CACGGAGTCCATGCTGAGCTC	0.537												
LRP1	4035	broad.mit.edu	37	12	57579622	57579622	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:57579622A>G	uc001snd.2	+	41	7238	c.6772A>G	c.(6772-6774)AGC>GGC	p.S2258G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2258	LDL-receptor class B 21.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CATCTTCTTCAGCGACATCCA	0.572												
BEST3	144453	broad.mit.edu	37	12	70049234	70049234	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70049234T>G	uc001svg.2	-	10	1687	c.1460A>C	c.(1459-1461)CAG>CCG	p.Q487P	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.Q274P|BEST3_uc010stm.1_Missense_Mutation_p.Q381P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	487	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CACACTGGACTGTGGGGTCAG	0.567												
CNOT2	4848	broad.mit.edu	37	12	70704760	70704760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70704760G>A	uc001svv.2	+	3	713	c.134G>A	c.(133-135)AGC>AAC	p.S45N	CNOT2_uc009zro.2_Missense_Mutation_p.S45N|CNOT2_uc009zrp.2_Missense_Mutation_p.S25N|CNOT2_uc009zrq.2_Missense_Mutation_p.S45N	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	45					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATGTACTACAGCCAGTCTTCT	0.373												
KCNC2	3747	broad.mit.edu	37	12	75601370	75601370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:75601370G>A	uc001sxg.1	-	2	938	c.394C>T	c.(394-396)CCG>TCG	p.P132S	KCNC2_uc009zry.2_Missense_Mutation_p.P132S|KCNC2_uc001sxe.2_Missense_Mutation_p.P132S|KCNC2_uc001sxf.2_Missense_Mutation_p.P132S|KCNC2_uc010stw.1_Missense_Mutation_p.P132S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	132	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TCGAAGAGCGGCCCGCACACG	0.677												
ALX1	8092	broad.mit.edu	37	12	85674056	85674056	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:85674056A>G	uc001tae.3	+	1	21	c.17A>G	c.(16-18)GAG>GGG	p.E6G		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	6					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TTTCTGAGCGAGAAGTTTGCC	0.572												
CCDC41	51134	broad.mit.edu	37	12	94769791	94769791	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:94769791A>G	uc001tdd.2	-	8	1390	c.804T>C	c.(802-804)GCT>GCC	p.A268A	CCDC41_uc001tde.2_Silent_p.A268A|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Silent_p.A268A	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	260	Potential.										0						ATTGTTTTTCAGCCTTTCATA	0.239												
APAF1	317	broad.mit.edu	37	12	99121028	99121028	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:99121028C>A	uc001tfz.2	+	26	4111	c.3534C>A	c.(3532-3534)GGC>GGA	p.G1178G	APAF1_uc001tfy.2_Silent_p.G1167G|APAF1_uc001tga.2_Silent_p.G1124G|APAF1_uc001tgb.2_Silent_p.G1135G|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.G502G	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1178	WD 13.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CCCATGGAGGCTGGGTGACTG	0.418												
GNPTAB	79158	broad.mit.edu	37	12	102154925	102154925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:102154925C>T	uc001tit.2	-	15	3294	c.3115G>A	c.(3115-3117)GAA>AAA	p.E1039K		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1039	EF-hand.				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						AACGGCAGTTCGTGAATTCTG	0.318												
STAB2	55576	broad.mit.edu	37	12	104123939	104123939	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:104123939A>G	uc001tjw.2	+	49	5314	c.5128A>G	c.(5128-5130)ATC>GTC	p.I1710V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1710	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ATCCAGTGATATCATCAGTAC	0.343												
BTBD11	121551	broad.mit.edu	37	12	108013807	108013807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:108013807G>A	uc001tmk.1	+	11	3018	c.2497G>A	c.(2497-2499)GCC>ACC	p.A833T	BTBD11_uc009zut.1_Missense_Mutation_p.A714T|BTBD11_uc001tmj.2_Missense_Mutation_p.A833T|BTBD11_uc001tml.1_Missense_Mutation_p.A370T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	833	ANK 5.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						TTTGCGGATCGCCTTCCAGCA	0.443												
MYO1H	283446	broad.mit.edu	37	12	109845646	109845646	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:109845646A>G	uc010sxn.1	+	9	1035	c.1035A>G	c.(1033-1035)GCA>GCG	p.A345A		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						CTAGAGATGCAATGGCAAAGG	0.443												
MVK	4598	broad.mit.edu	37	12	110023886	110023886	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:110023886T>A	uc001toy.3	+	6	771	c.587T>A	c.(586-588)ATT>AAT	p.I196N	MVK_uc009zvk.2_Missense_Mutation_p.I196N|MVK_uc010sxr.1_Missense_Mutation_p.I144N|MVK_uc001toz.3_Missense_Mutation_p.I2N|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GAGAGAATGATTCACGGGAAC	0.453												
ATXN2	6311	broad.mit.edu	37	12	111953992	111953992	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:111953992A>G	uc001tsj.2	-	10	1983	c.1821T>C	c.(1819-1821)CCT>CCC	p.P607P	ATXN2_uc001tsh.2_Silent_p.P342P|ATXN2_uc001tsi.2_Silent_p.P318P|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.P342P	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	607	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TAGTAGAGACAGGAGCTGGAG	0.517												
DDX54	79039	broad.mit.edu	37	12	113617081	113617081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:113617081C>T	uc001tup.2	-	4	459	c.431G>A	c.(430-432)AGT>AAT	p.S144N	DDX54_uc001tuq.3_Missense_Mutation_p.S144N	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	144	ATP (By similarity).|Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						TGTCTTGCCACTGCCCGTCCG	0.647												
KDM2B	84678	broad.mit.edu	37	12	121970842	121970842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:121970842G>A	uc001uat.2	-	8	904	c.800C>T	c.(799-801)ACG>ATG	p.T267M	KDM2B_uc001uas.2_Missense_Mutation_p.T236M|KDM2B_uc001uau.2_Missense_Mutation_p.T150M|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	267	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						ATTGTGCAGCGTTGGAGGAAT	0.557												
VPS33A	65082	broad.mit.edu	37	12	122750948	122750948	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:122750948G>A	uc001ucd.2	-	1	121	c.8C>T	c.(7-9)GCT>GTT	p.A3V	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.A3V	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	3					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGACAGATGAGCCGCCATCTT	0.647												
PITPNM2	57605	broad.mit.edu	37	12	123489928	123489928	+	Missense_Mutation	SNP	C	C	T	rs138122520		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:123489928C>T	uc001uej.1	-	6	950	c.811G>A	c.(811-813)GTC>ATC	p.V271I	PITPNM2_uc001uek.1_Missense_Mutation_p.V271I|PITPNM2_uc009zxu.1_Missense_Mutation_p.V271I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	271					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCGTGCTTGACGAGCTCAGTG	0.622												
DNAH10	196385	broad.mit.edu	37	12	124371810	124371810	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:124371810A>G	uc001uft.3	+	51	8616	c.8591A>G	c.(8590-8592)CAT>CGT	p.H2864R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2864	AAA 4 (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)		ACGGATGCCCATGTGGCTGAG	0.547												
FZD10	11211	broad.mit.edu	37	12	130647844	130647844	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:130647844G>A	uc001uii.2	+	1	813	c.357G>A	c.(355-357)CCG>CCA	p.P119P	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	119	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGTGCTCCCCGATTATGGAGC	0.627												
PDX1	3651	broad.mit.edu	37	13	28498612	28498612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:28498612G>A	uc001urt.2	+	2	734	c.626G>A	c.(625-627)CGC>CAC	p.R209H		NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	209					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GACAAGAAGCGCGGCGGCGGG	0.592												
NBEA	26960	broad.mit.edu	37	13	36006531	36006531	+	Splice_Site	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:36006531G>C	uc001uvb.2	+	39	6510	c.6304_splice	c.e39+1	p.G2102_splice	NBEA_uc010abi.2_Splice_Site_p.G758_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAGAATATGGTTAGTACCAA	0.398												
DCLK1	9201	broad.mit.edu	37	13	36385001	36385001	+	Silent	SNP	G	G	A	rs144489471	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:36385001G>A	uc001uvf.2	-	12	1892	c.1659C>T	c.(1657-1659)TAC>TAT	p.Y553Y	DCLK1_uc001uve.3_Silent_p.Y246Y|DCLK1_uc010teh.1_Silent_p.Y246Y|DCLK1_uc010abk.2_Silent_p.Y73Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	553	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGAGCCACGTATGTTGGGG	0.478												
FREM2	341640	broad.mit.edu	37	13	39264788	39264788	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:39264788T>A	uc001uwv.2	+	1	3616	c.3307T>A	c.(3307-3309)TTG>ATG	p.L1103M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1103	Extracellular (Potential).|CSPG 7.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGACATCTTGTGCACTAT	0.398												
NHLRC3	387921	broad.mit.edu	37	13	39621842	39621842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:39621842G>A	uc001uxc.2	+	7	1145	c.823G>A	c.(823-825)GCC>ACC	p.A275T	NHLRC3_uc001uxd.2_Missense_Mutation_p.A208T|NHLRC3_uc001uxe.2_Missense_Mutation_p.A78T	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	275						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CTTGATTGTGGCCCAGCTGAA	0.418												
ELF1	1997	broad.mit.edu	37	13	41533046	41533046	+	Missense_Mutation	SNP	A	A	G	rs138470719	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:41533046A>G	uc001uxs.2	-	3	552	c.179T>C	c.(178-180)ATG>ACG	p.M60T	ELF1_uc010tfc.1_Missense_Mutation_p.M60T|ELF1_uc010acd.2_5'UTR	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	60					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTCAGTAATCATGTCATTGGG	0.453												
MTRF1	9617	broad.mit.edu	37	13	41797467	41797467	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:41797467C>T	uc001uxx.2	-	11	1619	c.1149G>A	c.(1147-1149)GAG>GAA	p.E383E	MTRF1_uc001uxy.2_Silent_p.E383E|MTRF1_uc001uxz.2_Silent_p.E219E|MTRF1_uc010tff.1_Silent_p.E396E|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	383					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCCGAATTCGCTCTGACTGGG	0.378												
SPERT	220082	broad.mit.edu	37	13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:46287863G>A	uc001van.1	+	3	783	c.703G>A	c.(703-705)GCC>ACC	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677												
KPNA3	3839	broad.mit.edu	37	13	50296149	50296149	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:50296149A>G	uc001vdj.2	-	9	1083	c.668T>C	c.(667-669)GTC>GCC	p.V223A		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	223	NLS binding site (major) (By similarity).|ARM 4.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ATTGACAATGACCCATGTGAC	0.463												
SERPINE3	647174	broad.mit.edu	37	13	51922396	51922396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:51922396C>T	uc001vfh.2	+	4	808	c.748C>T	c.(748-750)CCT>TCT	p.P250S	SERPINE3_uc010tgp.1_Missense_Mutation_p.P250S	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	250					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GCTGGAGCTTCCTTACCTGGG	0.597												
SUGT1	10910	broad.mit.edu	37	13	53250454	53250454	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:53250454A>G	uc001vhc.2	+	12	1038	c.813A>G	c.(811-813)GCA>GCG	p.A271A	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.A239A|SUGT1_uc010thb.1_Silent_p.A183A|SUGT1_uc001vhd.2_Silent_p.A128A	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	271					mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AATTCGTAGCAGGTTTGTTTT	0.358												
PCDH17	27253	broad.mit.edu	37	13	58206969	58206969	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:58206969C>T	uc001vhq.1	+	1	1181	c.289C>T	c.(289-291)CGC>TGC	p.R97C	PCDH17_uc010aec.1_Missense_Mutation_p.R97C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	97	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCCTGTGCCGCCACAATGC	0.617												
EDNRB	1910	broad.mit.edu	37	13	78492678	78492678	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:78492678C>T	uc001vko.2	-	1	289	c.31G>A	c.(31-33)GCC>ACC	p.A11T	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A11T|EDNRB_uc010aez.1_Missense_Mutation_p.A11T|EDNRB_uc001vkp.1_Missense_Mutation_p.A94T|EDNRB_uc010afa.1_Missense_Mutation_p.A11T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	11					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)	GCAACCAGGGCGCGTCCGCAC	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DOCK9	23348	broad.mit.edu	37	13	99505739	99505739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:99505739C>T	uc001vnt.2	-	35	3927	c.3872G>A	c.(3871-3873)CGC>CAC	p.R1291H	DOCK9_uc001vnw.2_Missense_Mutation_p.R1290H|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1291H|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.R269H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1291					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTATCACAGCGAACCACGGA	0.378												
UBAC2	337867	broad.mit.edu	37	13	99966475	99966475	+	Splice_Site	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:99966475G>A	uc001voa.3	+	5	997	c.513_splice	c.e5+1	p.Q171_splice	UBAC2_uc010tiu.1_Splice_Site_p.Q193_splice|UBAC2_uc001vob.3_Splice_Site_p.Q144_splice|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Splice_Site_p.Q58_splice|UBAC2_uc001voc.2_Splice_Site_p.Q136_splice|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Splice_Site	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2 isoform 1							integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGACTGCAGGTACAGTATGC	0.338												
OR11H12	440153	broad.mit.edu	37	14	19377709	19377709	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:19377709A>C	uc010tkp.1	+	1	116	c.116A>C	c.(115-117)CAG>CCG	p.Q39P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGACAATTCAGATCTTCCTC	0.423												
POTEG	404785	broad.mit.edu	37	14	19553565	19553565	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:19553565A>G	uc001vuz.1	+	1	201	c.149A>G	c.(148-150)GAC>GGC	p.D50G	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										ovary(1)	1						GGAGACCACGACGATTCTGCT	0.602												
OR4Q3	441669	broad.mit.edu	37	14	20215981	20215981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20215981G>A	uc010tkt.1	+	1	395	c.395G>A	c.(394-396)CGC>CAC	p.R132H		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACCCTTTGCGCTACCTTACA	0.493												
OR4M1	441670	broad.mit.edu	37	14	20248625	20248625	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20248625C>A	uc010tku.1	+	1	144	c.144C>A	c.(142-144)ACC>ACA	p.T48T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATTTGCACCATCAGGCTAG	0.433												
OR4L1	122742	broad.mit.edu	37	14	20529031	20529031	+	Silent	SNP	A	A	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20529031A>T	uc001vwn.1	+	1	828	c.828A>T	c.(826-828)ACA>ACT	p.T276T		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATTTTATACAGTTATCACAC	0.363												
ANG	283	broad.mit.edu	37	14	21162101	21162101	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21162101C>T	uc001vxw.3	+	2	978	c.378C>T	c.(376-378)AAC>AAT	p.N126N	RNASE4_uc001vxx.3_Intron|RNASE4_uc001vxy.3_Intron|ANG_uc001vxz.2_Silent_p.N126N|RNASE4_uc001vya.2_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	126					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			ovary(1)	1	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GGTTCAGAAACGTTGTTGTTG	0.532												
RNASE1	6035	broad.mit.edu	37	14	21270141	21270141	+	Silent	SNP	C	C	T	rs150792279		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21270141C>T	uc001vyf.2	-	2	263	c.87G>A	c.(85-87)AAG>AAA	p.K29K	RNASE1_uc001vyg.2_Silent_p.K29K|RNASE1_uc001vyh.2_Silent_p.K29K|RNASE1_uc001vyi.2_Silent_p.K29K	NM_198232	NP_937875	P07998	RNAS1_HUMAN	pancreatic ribonuclease precursor	29						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding				0	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		CCCGGGATTCCTTGCCCAGGG	0.572												
NDRG2	57447	broad.mit.edu	37	14	21488953	21488953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21488953G>A	uc001vyy.2	-	8	608	c.458C>T	c.(457-459)GCG>GTG	p.A153V	NDRG2_uc010tll.1_Missense_Mutation_p.A149V|NDRG2_uc001vyt.2_Missense_Mutation_p.A66V|NDRG2_uc001vyu.2_Missense_Mutation_p.A139V|NDRG2_uc001vyv.2_Missense_Mutation_p.A139V|NDRG2_uc001vyw.2_Missense_Mutation_p.A139V|NDRG2_uc001vzb.2_Missense_Mutation_p.A93V|NDRG2_uc001vyx.2_Missense_Mutation_p.A153V|NDRG2_uc001vza.2_Missense_Mutation_p.A139V|NDRG2_uc001vyz.2_Missense_Mutation_p.A139V|NDRG2_uc001vzc.2_Missense_Mutation_p.A139V|NDRG2_uc001vze.2_Missense_Mutation_p.A153V|NDRG2_uc001vzd.2_Missense_Mutation_p.A153V|NDRG2_uc001vzg.2_Missense_Mutation_p.A139V|NDRG2_uc001vzf.2_Missense_Mutation_p.A139V|NDRG2_uc010aig.2_Missense_Mutation_p.A153V	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	153					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGCATATCTCGCCAGGATGTA	0.458												
CDH24	64403	broad.mit.edu	37	14	23517497	23517497	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23517497C>T	uc001wil.2	-	13	2412	c.2152G>A	c.(2152-2154)GCG>ACG	p.A718T	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.A680T	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	718	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTcggcgcgcgggagggccg	0.607												
PABPN1	8106	broad.mit.edu	37	14	23777209	23777209	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23777209G>A	uc001wjh.3	+	3	421	c.233G>A	c.(232-234)CGC>CAC	p.R78H	BCL2L2_uc001wjg.3_Missense_Mutation_p.R78H|BCL2L2_uc001wji.3_Missense_Mutation_p.R78H	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	Error:Variant_position_missing_in_Q86U42_after_alignment					modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCCAACAACGCTTCACCCAG	0.607												
MYH6	4624	broad.mit.edu	37	14	23855229	23855229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23855229G>A	uc001wjv.2	-	34	5138	c.5071C>T	c.(5071-5073)CGT>TGT	p.R1691C		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1691	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCACGGCACGCAGCTCCTCC	0.657												
PCK2	5106	broad.mit.edu	37	14	24572069	24572069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24572069G>A	uc001wlt.2	+	8	1474	c.1342G>A	c.(1342-1344)GCC>ACC	p.A448T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.A460T|PCK2_uc010tnw.1_Missense_Mutation_p.A314T|PCK2_uc010tnx.1_Missense_Mutation_p.A314T|PCK2_uc001wlu.3_Missense_Mutation_p.A314T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	448					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CCCCATTGACGCCATCATCTT	0.577												
IPO4	79711	broad.mit.edu	37	14	24655530	24655530	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24655530T>G	uc001wmv.1	-	10	1099	c.968A>C	c.(967-969)GAG>GCG	p.E323A	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.E187A|IPO4_uc001wmy.1_Missense_Mutation_p.E187A|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.E323A	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	323					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CCCCATCAGCTCAATCTCCAA	0.587												
TGM1	7051	broad.mit.edu	37	14	24727798	24727798	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24727798T>C	uc001wod.2	-	8	1365	c.1241A>G	c.(1240-1242)GAC>GGC	p.D414G	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	414					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GAAGTAGATGTCCATGGTAAG	0.567												
PRKD1	5587	broad.mit.edu	37	14	30103733	30103733	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:30103733T>G	uc001wqh.2	-	8	1386	c.1205A>C	c.(1204-1206)AAC>ACC	p.N402T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	402					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGGATATTGTTGCTTGTTGA	0.393												
SCFD1	23256	broad.mit.edu	37	14	31188570	31188570	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:31188570C>T	uc001wqm.1	+	21	1747	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	SCFD1_uc001wqn.1_Missense_Mutation_p.R508W|SCFD1_uc010tpg.1_Missense_Mutation_p.R516W|SCFD1_uc010tph.1_Missense_Mutation_p.R390W|SCFD1_uc010amf.1_Missense_Mutation_p.R390W|SCFD1_uc010tpi.1_Missense_Mutation_p.R483W|SCFD1_uc010ame.1_Missense_Mutation_p.R508W	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	575					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAAATGCTGCGGGGCAATGA	0.333												
HECTD1	25831	broad.mit.edu	37	14	31638663	31638663	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:31638663C>T	uc001wrc.1	-	9	1833	c.1344G>A	c.(1342-1344)CGG>CGA	p.R448R	HECTD1_uc001wrd.1_5'Flank	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	448	ANK 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACCATGCCGTAACAGAG	0.358												
AKAP6	9472	broad.mit.edu	37	14	33015700	33015700	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:33015700T>C	uc001wrq.2	+	4	2011	c.1841T>C	c.(1840-1842)GTC>GCC	p.V614A	AKAP6_uc010aml.2_Missense_Mutation_p.V611A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	614					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCAAGTCACGTCACTAGGAAT	0.478												
SEC23A	10484	broad.mit.edu	37	14	39514489	39514489	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:39514489A>G	uc001wup.1	-	16	2000	c.1777T>C	c.(1777-1779)TTT>CTT	p.F593L	SEC23A_uc010tqa.1_Missense_Mutation_p.F479L|SEC23A_uc010tqb.1_Missense_Mutation_p.F564L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	593					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTATTGTTAAAAACTTGCAGG	0.323												
C14orf182	283551	broad.mit.edu	37	14	50472448	50472448	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:50472448T>C	uc001wxi.1	-	1	1791	c.70A>G	c.(70-72)ACC>GCC	p.T24A		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	24											0						TCCACACAGGTTCTACTGCTC	0.502												
TBPL2	387332	broad.mit.edu	37	14	55900349	55900349	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:55900349T>C	uc001xby.2	-	4	787	c.787A>G	c.(787-789)AGT>GGT	p.S263G		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	263					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						TCCTCATACCTTTTGGCTCCC	0.443												
C14orf105	55195	broad.mit.edu	37	14	57938138	57938138	+	Missense_Mutation	SNP	G	G	C	rs144453893	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:57938138G>C	uc001xcy.2	-	6	969	c.826C>G	c.(826-828)CGA>GGA	p.R276G	C14orf105_uc010trl.1_Missense_Mutation_p.R316G|C14orf105_uc010trm.1_Missense_Mutation_p.R187G|C14orf105_uc010trn.1_Missense_Mutation_p.R187G|C14orf105_uc001xcz.2_Missense_Mutation_p.R275G	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	276											0						ACCAGTGCTCGTGGCTTCTTC	0.453												
WDR89	112840	broad.mit.edu	37	14	64065892	64065892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:64065892G>A	uc001xgh.2	-	3	1015	c.769C>T	c.(769-771)CGT>TGT	p.R257C	WDR89_uc001xgi.2_Missense_Mutation_p.R257C	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN	WD repeat domain 89	257											0				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		ATGTTCAAACGTGTAACTGGT	0.383												
ACTN1	87	broad.mit.edu	37	14	69358881	69358881	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:69358881C>T	uc001xkl.2	-	10	1285	c.975G>A	c.(973-975)CCG>CCA	p.P325P	ACTN1_uc010ttb.1_Silent_p.P260P|ACTN1_uc001xkm.2_Silent_p.P325P|ACTN1_uc001xkn.2_Silent_p.P325P|ACTN1_uc001xko.1_Silent_p.P260P|ACTN1_uc010ttd.1_Silent_p.P304P	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	325	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCACCTTGGGCGGCTTGTGCA	0.622												
C14orf115	55237	broad.mit.edu	37	14	74824119	74824119	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:74824119C>T	uc001xpw.3	+	2	824	c.633C>T	c.(631-633)TGC>TGT	p.C211C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	211					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCCGCCGCTGCGACCACGTGC	0.637												
PSMC1	5700	broad.mit.edu	37	14	90735804	90735804	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:90735804G>C	uc001xyf.2	+	9	993	c.945G>C	c.(943-945)CAG>CAC	p.Q315H	PSMC1_uc001xyg.2_Missense_Mutation_p.Q242H|PSMC1_uc001xyh.2_Missense_Mutation_p.Q242H	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	315					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|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGCTGAACCAGTTGGATGGAT	0.398												
ASB2	51676	broad.mit.edu	37	14	94413763	94413763	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:94413763G>A	uc001ycc.1	-	5	1329	c.840C>T	c.(838-840)GCC>GCT	p.A280A	ASB2_uc001ycd.2_Silent_p.A328A|ASB2_uc001yce.1_Silent_p.A226A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	280	ANK 7.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGTTGGCGTCGGCACCCTGTG	0.617												
ADSSL1	122622	broad.mit.edu	37	14	105208323	105208323	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:105208323C>A	uc001ypd.2	+	9	1006	c.932C>A	c.(931-933)CCC>CAC	p.P311H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P354H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	311					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGGGCCTTCCCCACCGAGCAG	0.682												
MAGEL2	54551	broad.mit.edu	37	15	23890722	23890722	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:23890722G>A	uc001ywj.3	-	1	454	c.359C>T	c.(358-360)GCC>GTC	p.A120V		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TATAGAAGAGGCCCTGCATTC	0.592												
C15orf2	23742	broad.mit.edu	37	15	24923624	24923624	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:24923624A>C	uc001ywo.2	+	1	3084	c.2610A>C	c.(2608-2610)CAA>CAC	p.Q870H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	870					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCAGCCCAAGTCTCCACCA	0.498												
OTUD7A	161725	broad.mit.edu	37	15	31776530	31776530	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:31776530G>A	uc001zfq.2	-	11	1841	c.1748C>T	c.(1747-1749)CCG>CTG	p.P583L	OTUD7A_uc001zfr.2_Missense_Mutation_p.P590L	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	583						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTTTTCCGACGGCGACGTGCT	0.697												
FMN1	342184	broad.mit.edu	37	15	33358802	33358802	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:33358802C>T	uc001zhf.3	-	1	1284	c.1284G>A	c.(1282-1284)AAG>AAA	p.K428K	FMN1_uc001zhg.2_Silent_p.K428K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	178	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCTTGCGCTTGAGAGCTT	0.527												
TGM5	9333	broad.mit.edu	37	15	43545709	43545709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:43545709C>T	uc001zrd.1	-	5	687	c.679G>A	c.(679-681)GCC>ACC	p.A227T	TGM5_uc001zre.1_Missense_Mutation_p.A145T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	227					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCACCATGGCACACACCACT	0.647												
RNF111	54778	broad.mit.edu	37	15	59359012	59359012	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59359012T>C	uc002afv.2	+	6	1695	c.1416T>C	c.(1414-1416)CCT>CCC	p.P472P	RNF111_uc002afs.2_Silent_p.P472P|RNF111_uc002aft.2_Silent_p.P472P|RNF111_uc002afu.2_Silent_p.P472P|RNF111_uc002afw.2_Silent_p.P472P|RNF111_uc002afx.2_5'UTR	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	472					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CTGGCCCTCCTGCAATGCCAA	0.448												
RNF111	54778	broad.mit.edu	37	15	59373146	59373146	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59373146A>G	uc002afv.2	+	8	2239	c.1960A>G	c.(1960-1962)ACA>GCA	p.T654A	RNF111_uc002afs.2_Missense_Mutation_p.T654A|RNF111_uc002aft.2_Missense_Mutation_p.T654A|RNF111_uc002afu.2_Missense_Mutation_p.T653A|RNF111_uc002afw.2_Missense_Mutation_p.T654A|RNF111_uc002afx.2_Missense_Mutation_p.T180A	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	654	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		TGCCTCTTTGACAAGGCCACT	0.423												
HERC1	8925	broad.mit.edu	37	15	63904497	63904497	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:63904497T>C	uc002amp.2	-	77	14501	c.14353A>G	c.(14353-14355)AAC>GAC	p.N4785D	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4785	HECT.				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						TCAGCAGTGTTGGCTGGTAGT	0.443												
FAM96A	84191	broad.mit.edu	37	15	64373351	64373351	+	Splice_Site	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:64373351C>A	uc002amt.1	-	3	530	c.290_splice	c.e3-1	p.G97_splice	FAM96A_uc002amu.1_Intron|FAM96A_uc010uin.1_Intron	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A						chromosome segregation						0						AAGCACAGCCCTGTGGAGGGA	0.338												
CYP11A1	1583	broad.mit.edu	37	15	74640300	74640300	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:74640300G>A	uc002axt.2	-	2	521	c.366C>T	c.(364-366)CTC>CTT	p.L122L	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.L122L|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.L122L	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	122					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGGGCGGGATGAGGAATCGTT	0.577												
AP3B2	8120	broad.mit.edu	37	15	83333197	83333197	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:83333197C>A	uc010uoh.1	-	18	2303	c.2126G>T	c.(2125-2127)AGC>ATC	p.S709I	AP3B2_uc010uoi.1_Missense_Mutation_p.S728I|AP3B2_uc010uoj.1_Missense_Mutation_p.S677I|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.S345I|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	709	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCAGAGCCGCTCTCACTGCT	0.557												
BLM	641	broad.mit.edu	37	15	91295092	91295092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:91295092A>G	uc002bpr.2	+	4	972	c.875A>G	c.(874-876)GAT>GGT	p.D292G	BLM_uc010uqh.1_Missense_Mutation_p.D292G|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.D292G	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	292	Poly-Asp.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATTGAATTTGATGATGATGAT	0.318			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
SOLH	6650	broad.mit.edu	37	16	603483	603483	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:603483G>T	uc002chi.2	+	14	3591	c.3228G>T	c.(3226-3228)GAG>GAT	p.E1076D	SOLH_uc002chj.2_Missense_Mutation_p.E136D	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	1076					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				TCACGCCAGAGGTCGCCGGTC	0.672												
TELO2	9894	broad.mit.edu	37	16	1556268	1556268	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:1556268C>T	uc002cly.2	+	17	2355	c.2064C>T	c.(2062-2064)AGC>AGT	p.S688S		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	688						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				CGGCAGGCAGCCCCAGCAGAT	0.662												
PKD1	5310	broad.mit.edu	37	16	2158763	2158763	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:2158763C>T	uc002cos.1	-	15	6614	c.6405G>A	c.(6403-6405)GCG>GCA	p.A2135A	PKD1_uc002cot.1_Silent_p.A2135A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2135	PKD 17.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCGTGGCCTGCGCCACGAAGA	0.672												
ZNF205	7755	broad.mit.edu	37	16	3170075	3170075	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:3170075G>T	uc002cub.2	+	7	1549	c.1414G>T	c.(1414-1416)GGC>TGC	p.G472C	ZNF205_uc002cua.2_Missense_Mutation_p.G472C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CACACACACAGGCGAGAAGCC	0.672												
GRIN2A	2903	broad.mit.edu	37	16	9934585	9934585	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:9934585A>C	uc002czo.3	-	7	2118	c.1570T>G	c.(1570-1572)TTC>GTC	p.F524V	GRIN2A_uc010uym.1_Missense_Mutation_p.F524V|GRIN2A_uc010uyn.1_Missense_Mutation_p.F367V|GRIN2A_uc002czr.3_Missense_Mutation_p.F524V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	524	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCACAGAGAAGTCCACCACT	0.458												
ITPRIPL2	162073	broad.mit.edu	37	16	19127146	19127146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:19127146G>A	uc002dfu.3	+	1	1893	c.1363G>A	c.(1363-1365)GTC>ATC	p.V455I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.V151I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	455	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						CTTCCACTGCGTCCTGGGCCC	0.672												
PLK1	5347	broad.mit.edu	37	16	23695383	23695383	+	Missense_Mutation	SNP	C	C	T	rs150139246		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:23695383C>T	uc002dlz.1	+	5	1062	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	337	D-box that targets the protein for proteasomal degradation in anaphase.			R->A: Interferes with ubiquitination and subsequent proteasomal degradation in anaphase; when associated with A-340.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		CCCCAGCAACCGGAAGCCCCT	0.557												
AQP8	343	broad.mit.edu	37	16	25228660	25228660	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:25228660G>A	uc002doc.2	+	2	236	c.154G>A	c.(154-156)GGG>AGG	p.G52R		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	52	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CATCTTCATCGGGTGCCTGTC	0.637												
KIAA0556	23247	broad.mit.edu	37	16	27709693	27709693	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:27709693A>C	uc002dow.2	+	9	1009	c.985A>C	c.(985-987)ACT>CCT	p.T329P	KIAA0556_uc002dox.1_Missense_Mutation_p.T237P	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	329										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AACCCGCAAAACTCTTTGCGA	0.577												
TAOK2	9344	broad.mit.edu	37	16	29997132	29997132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:29997132C>T	uc002dva.1	+	15	2725	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R648C|TAOK2_uc002dvc.1_Missense_Mutation_p.R648C|TAOK2_uc010bzm.1_Missense_Mutation_p.R655C|TAOK2_uc002dvd.1_Missense_Mutation_p.R475C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	648					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCAGTACAAGCGCAAGATGTT	0.652												
ZNF768	79724	broad.mit.edu	37	16	30536832	30536832	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:30536832A>G	uc002dyk.3	-	2	805	c.629T>C	c.(628-630)CTG>CCG	p.L210P	ZNF768_uc010vex.1_Missense_Mutation_p.L179P|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.L179P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	210					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CCCTATGGGCAGGTCCCCTGT	0.577												
PHKG2	5261	broad.mit.edu	37	16	30768297	30768297	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:30768297A>G	uc002dzk.1	+	10	1193	c.1100A>G	c.(1099-1101)CAG>CGG	p.Q367R	PHKG2_uc002dzi.1_Missense_Mutation_p.Q371R|PHKG2_uc002dzj.1_Missense_Mutation_p.Q265R	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	367	Calmodulin-binding (domain-C) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			AAAGGGGAGCAGCAGAACCGG	0.597												
ABCC11	85320	broad.mit.edu	37	16	48239399	48239399	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:48239399A>G	uc002eff.1	-	12	2080	c.1730T>C	c.(1729-1731)GTC>GCC	p.V577A	ABCC11_uc002efg.1_Missense_Mutation_p.V577A|ABCC11_uc002efh.1_Missense_Mutation_p.V577A|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	577	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGCTGGGGGACATAGGCCAG	0.622									Cerumen_Type			
ADCY7	113	broad.mit.edu	37	16	50326687	50326687	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:50326687T>C	uc002egd.1	+	4	906	c.638T>C	c.(637-639)GTG>GCG	p.V213A	ADCY7_uc002egb.1_Missense_Mutation_p.V213A|ADCY7_uc002egc.1_Missense_Mutation_p.V213A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	213	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 ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCTACACTGTGAAGTGCATC	0.612												
IRX3	79191	broad.mit.edu	37	16	54318975	54318975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:54318975G>A	uc002eht.1	-	2	1234	c.818C>T	c.(817-819)GCG>GTG	p.A273V		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	273					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGCGCGCCGCCCCAGCCAG	0.493												
LPCAT2	54947	broad.mit.edu	37	16	55583231	55583231	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55583231C>T	uc002eie.3	+	10	1159	c.978C>T	c.(976-978)TGC>TGT	p.C326C	LPCAT2_uc002eic.2_Silent_p.C56C	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	326	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						ATGAAGACTGCAGATTGATGA	0.318												
LPCAT2	54947	broad.mit.edu	37	16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	rs139462449		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55584911C>T	uc002eie.3	+	11	1293	c.1112C>T	c.(1111-1113)GCG>GTG	p.A371V	LPCAT2_uc002eic.2_Missense_Mutation_p.A101V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GCATCTATTGCGAGTTCCTCA	0.348												
CES1	1066	broad.mit.edu	37	16	55850858	55850858	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55850858T>A	uc002eim.2	-	8	1028	c.920A>T	c.(919-921)GAC>GTC	p.D307V	CES1_uc010ccf.2_5'UTR|CES1_uc002eil.2_Missense_Mutation_p.D308V|CES1_uc002ein.2_Missense_Mutation_p.D307V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	307					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCCCTGTAAGTCCAGAGATAA	0.473												
RSPRY1	89970	broad.mit.edu	37	16	57246908	57246908	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:57246908A>G	uc002elb.2	+	5	819	c.541A>G	c.(541-543)ATT>GTT	p.I181V	RSPRY1_uc002elc.2_Missense_Mutation_p.I181V|RSPRY1_uc002eld.2_Missense_Mutation_p.I181V	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	181						extracellular region	zinc ion binding			ovary(1)	1						ATTGACTGAAATTCTCAATTT	0.428												
CDH8	1006	broad.mit.edu	37	16	61935209	61935209	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:61935209A>G	uc002eog.1	-	3	673	c.421T>C	c.(421-423)TGG>CGG	p.W141R		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	141	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTGTCTCCCAGTCCACTGCT	0.403												
PSKH1	5681	broad.mit.edu	37	16	67942865	67942865	+	Silent	SNP	G	G	A	rs146109328		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:67942865G>A	uc002euv.2	+	2	383	c.213G>A	c.(211-213)ACG>ACA	p.T71T	PSKH1_uc010cet.2_Silent_p.T71T	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	71						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CTGGCCACACGGAGCCTCCCT	0.587												
SLC12A4	6560	broad.mit.edu	37	16	67986246	67986246	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:67986246A>G	uc002euz.2	-	7	899	c.758T>C	c.(757-759)GTG>GCG	p.V253A	SLC12A4_uc010ceu.2_Missense_Mutation_p.V247A|SLC12A4_uc010vkh.1_Missense_Mutation_p.V222A|SLC12A4_uc010vki.1_Missense_Mutation_p.V253A|SLC12A4_uc010vkj.1_Missense_Mutation_p.V255A|SLC12A4_uc002eva.2_Missense_Mutation_p.V253A|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_3'UTR	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	253	Helical; (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)	GGTCCCATACACACGCATATT	0.488												
PLA2G15	23659	broad.mit.edu	37	16	68293549	68293549	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:68293549C>A	uc002evr.2	+	6	1311	c.1228C>A	c.(1228-1230)CTT>ATT	p.L410I	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Missense_Mutation_p.L316I|PLA2G15_uc010vlf.1_Missense_Mutation_p.L210I|PLA2G15_uc002evs.2_Missense_Mutation_p.L231I	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	410					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						ACGTGTGCTCCTTGGGCCCTG	0.627												
CLEC18A	348174	broad.mit.edu	37	16	69996892	69996892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:69996892G>A	uc010vlo.1	+	12	1345	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CLEC18C_uc002exy.2_Intron|CLEC18A_uc002exz.2_Missense_Mutation_p.V409M|CLEC18A_uc002eya.2_Missense_Mutation_p.V409M	NM_001136214	NP_001129686	A5D8T8	CL18A_HUMAN	secretory protein LOC348174 precursor	409	C-type lectin.					extracellular region	sugar binding				0						TGGCAACTGCGTGGAGCTGCA	0.597												
DDX19A	55308	broad.mit.edu	37	16	70395364	70395364	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:70395364C>A	uc002eyv.2	+	5	408	c.337C>A	c.(337-339)CGA>AGA	p.R113R	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Silent_p.R114R|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_5'UTR|DDX19A_uc010cfs.2_5'UTR|DDX19A_uc010vlz.1_Intron|DDX19A_uc010vma.1_Silent_p.R23R	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	113	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				GGGCTTCAATCGACCCTCCAA	0.478												
HYDIN	54768	broad.mit.edu	37	16	70843797	70843797	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:70843797C>T	uc002ezr.2	-	85	14897	c.14769G>A	c.(14767-14769)ACG>ACA	p.T4923T	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4924										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GAAGTGCTGGCGTGGCTTTCA	0.468												
TAT	6898	broad.mit.edu	37	16	71610203	71610203	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:71610203G>T	uc002fap.2	-	2	215	c.116C>A	c.(115-117)GCC>GAC	p.A39D	TAT_uc002faq.2_Missense_Mutation_p.A39D|TAT_uc002far.2_Missense_Mutation_p.A39D	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	39					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGACCACCTGGCCTTTCTGCC	0.502												
ZNF821	55565	broad.mit.edu	37	16	71894307	71894307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:71894307G>A	uc010vmj.1	-	7	1229	c.853C>T	c.(853-855)CGG>TGG	p.R285W	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.R135W|ZNF821_uc002fbf.2_Missense_Mutation_p.R243W|ZNF821_uc002fbg.3_Missense_Mutation_p.R135W|ZNF821_uc002fbh.3_Missense_Mutation_p.R243W|ZNF821_uc002fbi.3_Missense_Mutation_p.R82W	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	285	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCATTGTCCCGCCGGCTCTTC	0.642												
MLKL	197259	broad.mit.edu	37	16	74729294	74729294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:74729294C>T	uc002fdb.2	-	2	803	c.362G>A	c.(361-363)CGC>CAC	p.R121H	MLKL_uc002fdc.2_Missense_Mutation_p.R121H	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	121							ATP binding|protein binding|protein kinase activity			stomach(2)	2						AACAGGCATGCGTTGCTCAAC	0.512												
WDR59	79726	broad.mit.edu	37	16	74908279	74908279	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:74908279T>C	uc002fdh.1	-	26	2855	c.2753A>G	c.(2752-2754)AAA>AGA	p.K918R	WDR59_uc002fdf.1_Missense_Mutation_p.K363R|WDR59_uc002fdg.1_Missense_Mutation_p.K510R	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	918										ovary(1)|breast(1)	2						CGTGAAGCCTTTGCAGATGGC	0.607												
ADAMTS18	170692	broad.mit.edu	37	16	77328919	77328919	+	Silent	SNP	T	T	G	rs140716153		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:77328919T>G	uc002ffc.3	-	19	3326	c.2907A>C	c.(2905-2907)GCA>GCC	p.A969A	ADAMTS18_uc010chc.1_Silent_p.A557A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	969	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AATGCAACACTGCTTCCTCCT	0.567												
KIAA0182	23199	broad.mit.edu	37	16	85688453	85688453	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:85688453A>G	uc002fix.2	+	5	727	c.653A>G	c.(652-654)TAC>TGC	p.Y218C	KIAA0182_uc002fiw.2_Missense_Mutation_p.Y114C|KIAA0182_uc002fiy.2_Missense_Mutation_p.Y145C	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	218							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						ACCGAGGACTACCTGAGAAGC	0.677												
FBXO31	79791	broad.mit.edu	37	16	87367837	87367837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:87367837C>T	uc002fjw.2	-	8	1096	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	FBXO31_uc010vot.1_Missense_Mutation_p.R179Q|FBXO31_uc002fjv.2_Missense_Mutation_p.R243Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	351					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCTGGATCCGATGCCTCAG	0.657												
CTU2	348180	broad.mit.edu	37	16	88781126	88781126	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:88781126G>A	uc002flm.2	+	12	1381	c.1333G>A	c.(1333-1335)GGC>AGC	p.G445S	CTU2_uc002fln.2_Missense_Mutation_p.G445S|CTU2_uc010chz.2_Missense_Mutation_p.G516S|CTU2_uc010cia.2_Missense_Mutation_p.G358S	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	445					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						CCAGCGCTGTGGCCAGGGGGC	0.697												
WDR81	124997	broad.mit.edu	37	17	1634162	1634162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:1634162A>G	uc002fti.2	+	3	469	c.208A>G	c.(208-210)AGC>GGC	p.S70G	WDR81_uc002fth.2_Missense_Mutation_p.S246G|WDR81_uc010vqp.1_Missense_Mutation_p.S94G|WDR81_uc002ftj.2_Missense_Mutation_p.S1297G|WDR81_uc010vqq.1_5'UTR	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	70										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTGTGCTCAGCTGCCTCCT	0.637												
ANKFY1	51479	broad.mit.edu	37	17	4098700	4098700	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4098700T>G	uc002fxq.1	-	9	1208	c.1170A>C	c.(1168-1170)AAA>AAC	p.K390N	ANKFY1_uc002fxn.2_Missense_Mutation_p.K432N|ANKFY1_uc002fxo.2_Missense_Mutation_p.K390N|ANKFY1_uc002fxp.2_Missense_Mutation_p.K389N|ANKFY1_uc010ckp.2_Missense_Mutation_p.K331N|ANKFY1_uc002fxr.2_Missense_Mutation_p.K390N	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	390	ANK 5.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CTACGTACTGTTTGCACTGCA	0.458												
ENO3	2027	broad.mit.edu	37	17	4858519	4858519	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4858519C>A	uc002gab.3	+	7	688	c.594C>A	c.(592-594)GCC>GCA	p.A198A	ENO3_uc010vsr.1_Silent_p.A105A|ENO3_uc002gac.3_Silent_p.A198A|ENO3_uc010vss.1_Silent_p.A155A|ENO3_uc010vst.1_Silent_p.A34A	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	198					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TCATCAAGGCCAAGTATGGGA	0.582												
FAM64A	54478	broad.mit.edu	37	17	6348605	6348605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:6348605G>A	uc002gcw.1	+	2	224	c.175G>A	c.(175-177)GTC>ATC	p.V59I	FAM64A_uc002gct.1_Missense_Mutation_p.V59I|FAM64A_uc002gcu.1_Missense_Mutation_p.V59I|FAM64A_uc002gcv.1_Missense_Mutation_p.V59I|FAM64A_uc002gcx.1_Missense_Mutation_p.V59I|FAM64A_uc002gcy.1_RNA|FAM64A_uc002gcz.1_RNA|FAM64A_uc002gda.1_Missense_Mutation_p.V59I|FAM64A_uc002gdb.1_Missense_Mutation_p.V59I	NM_019013	NP_061886	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	59						nucleolus	protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		CCTGAGAGCCGTCAACCTCAA	0.647												
MYH10	4628	broad.mit.edu	37	17	8383818	8383818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:8383818G>A	uc002gll.2	-	37	5293	c.5197C>T	c.(5197-5199)CGT>TGT	p.R1733C	MYH10_uc002glm.2_Missense_Mutation_p.R1764C|MYH10_uc010cnx.2_Missense_Mutation_p.R1742C	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1733	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GCTTCCAGACGCCGCTTCTCA	0.567												
PIK3R6	146850	broad.mit.edu	37	17	8707380	8707380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:8707380C>T	uc002glq.1	-	20	2327	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	696					platelet activation	cytosol					0						CCTGAAAGTGCGTTGATCGTC	0.587												
FLCN	201163	broad.mit.edu	37	17	17131329	17131329	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:17131329C>A	uc002gra.3	-	4	627	c.123G>T	c.(121-123)CAG>CAT	p.Q41H	PLD6_uc010cpn.2_RNA|FLCN_uc002grb.3_Missense_Mutation_p.Q41H|FLCN_uc002grc.2_Missense_Mutation_p.Q41H	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	41					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CCTGCTCACCCTGGCCAGGAC	0.657									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer			
LRRC48	83450	broad.mit.edu	37	17	17898358	17898358	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:17898358A>G	uc010vxd.1	+	9	1136	c.757A>G	c.(757-759)ATG>GTG	p.M253V	LRRC48_uc002gsa.2_Missense_Mutation_p.M253V|LRRC48_uc010vxc.1_Missense_Mutation_p.M253V|LRRC48_uc002gsb.2_Missense_Mutation_p.M253V|LRRC48_uc010vxe.1_5'Flank	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	253						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GTTTGACAGCATGTACGCTGA	0.517												
DRG2	1819	broad.mit.edu	37	17	18005286	18005286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:18005286C>T	uc002gsh.1	+	9	836	c.781C>T	c.(781-783)CGA>TGA	p.R261*	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Nonsense_Mutation_p.R261*	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	261					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					CCGCCTGGCCCGAAAACCCAA	0.577												
USP22	23326	broad.mit.edu	37	17	20907606	20907606	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:20907606T>G	uc002gym.3	-	12	1648	c.1444A>C	c.(1444-1446)AGC>CGC	p.S482R	USP22_uc002gyn.3_Missense_Mutation_p.S470R|USP22_uc002gyl.3_Missense_Mutation_p.S377R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	482					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						CGGATAAAGCTGGTGTAGTGG	0.547												
KSR1	8844	broad.mit.edu	37	17	25909717	25909717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:25909717G>A	uc010crg.2	+	5	600	c.155G>A	c.(154-156)CGG>CAG	p.R52Q	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	187					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTGGATGCGCGGCGGGAAAGT	0.642												
SLC13A2	9058	broad.mit.edu	37	17	26821457	26821457	+	Missense_Mutation	SNP	C	C	T	rs141214124		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:26821457C>T	uc002hbh.2	+	9	1302	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	SLC13A2_uc010wam.1_Missense_Mutation_p.T368M|SLC13A2_uc010wan.1_Missense_Mutation_p.T461M|SLC13A2_uc010wao.1_Missense_Mutation_p.T369M|SLC13A2_uc002hbi.2_Missense_Mutation_p.T341M	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	412						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GACTGGAAGACGGTGAACCAG	0.577											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO1D	4642	broad.mit.edu	37	17	31087632	31087632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:31087632C>T	uc002hho.1	-	9	1061	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	MYO1D_uc002hhp.1_Missense_Mutation_p.R350H|MYO1D_uc010wcb.1_Missense_Mutation_p.R350H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	350	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAAAAAAGGCGCTCATATAT	0.383												
TMEM98	26022	broad.mit.edu	37	17	31260227	31260227	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:31260227A>G	uc002hhq.2	+	4	625	c.167A>G	c.(166-168)CAG>CGG	p.Q56R	TMEM98_uc002hhr.2_Missense_Mutation_p.Q56R	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	56						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ATGGAGACCCAGTCTGAGCCC	0.527												
SLFN11	91607	broad.mit.edu	37	17	33679651	33679651	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:33679651A>G	uc010ctp.2	-	7	2872	c.2430T>C	c.(2428-2430)GCT>GCC	p.A810A	SLFN11_uc010ctq.2_Silent_p.A810A|SLFN11_uc002hjh.3_Silent_p.A810A|SLFN11_uc002hjg.3_Silent_p.A810A|SLFN11_uc010ctr.2_Silent_p.A810A	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	810						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACAAGCACAGCAACATCCT	0.453												
MYO19	80179	broad.mit.edu	37	17	34862834	34862834	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:34862834A>G	uc010wcy.1	-	18	2604	c.1612T>C	c.(1612-1614)TAC>CAC	p.Y538H	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	538	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTGTGTGGTACCGCACAGGC	0.612												
LHX1	3975	broad.mit.edu	37	17	35298059	35298059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:35298059C>T	uc002hnh.1	+	3	1546	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LHX1_uc010cux.1_Missense_Mutation_p.R92C	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	184	Homeobox.			R -> G (in Ref. 1; AAA21644).	cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCGGGGACCGCGCACCACCAT	0.662												
CWC25	54883	broad.mit.edu	37	17	36958376	36958376	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:36958376A>G	uc002hqu.2	-	10	1400	c.1247T>C	c.(1246-1248)GTA>GCA	p.V416A	CWC25_uc010wdv.1_Missense_Mutation_p.V353A|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	416											0						CTCCAGAGCTACCGAAGTTCT	0.458												
KRT10	3858	broad.mit.edu	37	17	38978786	38978786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:38978786C>A	uc002hvi.2	-	1	78	c.52G>T	c.(52-54)GGA>TGA	p.G18*	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	18	Head.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				cctcctcctcctccACTGCGG	0.408												
KRT39	390792	broad.mit.edu	37	17	39123064	39123064	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:39123064T>C	uc002hvo.1	-	1	81	c.45A>G	c.(43-45)CCA>CCG	p.P15P	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	15	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				AGTTTTGACATGGGGTTGAAG	0.473												
DNAJC7	7266	broad.mit.edu	37	17	40152526	40152526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:40152526G>A	uc002hyo.2	-	2	377	c.140C>T	c.(139-141)GCT>GTT	p.A47V	DNAJC7_uc010wgb.1_5'UTR|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_Intron|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	47	TPR 1.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATAATTATAAGCTTCATTGTA	0.328												
MEOX1	4222	broad.mit.edu	37	17	41719304	41719304	+	Missense_Mutation	SNP	A	A	C	rs78282512		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:41719304A>C	uc002idz.2	-	3	768	c.739T>G	c.(739-741)TCC>GCC	p.S247A	MEOX1_uc002iea.2_3'UTR|MEOX1_uc002ieb.2_Missense_Mutation_p.S132A	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	247						nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGCTGTGGAGTCCCCATCC	0.562												
SOST	50964	broad.mit.edu	37	17	41835990	41835990	+	Silent	SNP	G	G	A	rs149814744		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:41835990G>A	uc002iec.1	-	1	167	c.120C>T	c.(118-120)CTC>CTT	p.L40L		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	40					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGTACTCTCCGAGCTCGGGGA	0.617												
SLC4A1	6521	broad.mit.edu	37	17	42328633	42328633	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:42328633A>G	uc002igf.3	-	19	2698	c.2549T>C	c.(2548-2550)GTG>GCG	p.V850A		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	850	Helical; (Potential).|Membrane (anion exchange).		Missing (in AR-dRTA).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGTGGACTTCACCACCCACAG	0.637												
GPATCH8	23131	broad.mit.edu	37	17	42483368	42483368	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:42483368A>G	uc002igw.1	-	7	608	c.544T>C	c.(544-546)TCC>CCC	p.S182P	GPATCH8_uc002igv.1_Missense_Mutation_p.S104P|GPATCH8_uc010wiz.1_Missense_Mutation_p.S104P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	182						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCTTGCGGGATCTTGAAGAG	0.408												
SGCA	6442	broad.mit.edu	37	17	48245314	48245314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48245314G>A	uc002iqi.2	+	4	355	c.319G>A	c.(319-321)GCC>ACC	p.A107T	SGCA_uc010wmh.1_Missense_Mutation_p.A5T|SGCA_uc002iqj.2_Missense_Mutation_p.A107T|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	107	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CCAGGTCACAGCCTACAATCG	0.577												
LRRC59	55379	broad.mit.edu	37	17	48462519	48462519	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48462519C>T	uc002iqt.2	-	6	790	c.636G>A	c.(634-636)GAG>GAA	p.E212E		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	212	Potential.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCTTCTCCTGCTCCCGCTTGG	0.542												
SPATA20	64847	broad.mit.edu	37	17	48631632	48631632	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48631632A>G	uc002irf.2	+	14	2071	c.1930A>G	c.(1930-1932)AGC>GGC	p.S644G	SPATA20_uc002irc.2_Missense_Mutation_p.S311G|SPATA20_uc002ire.2_Missense_Mutation_p.S600G|SPATA20_uc002ird.2_Missense_Mutation_p.S660G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	644					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGCAGAGCCCAGCGCCAATTC	0.612												
CACNA1G	8913	broad.mit.edu	37	17	48678110	48678110	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48678110G>A	uc002irk.1	+	18	4086	c.3714G>A	c.(3712-3714)GCG>GCA	p.A1238A	CACNA1G_uc002iri.1_Silent_p.A1238A|CACNA1G_uc002irj.1_Silent_p.A1215A|CACNA1G_uc002irl.1_Silent_p.A1215A|CACNA1G_uc002irm.1_Silent_p.A1215A|CACNA1G_uc002irn.1_Silent_p.A1215A|CACNA1G_uc002iro.1_Silent_p.A1215A|CACNA1G_uc002irp.1_Silent_p.A1238A|CACNA1G_uc002irq.1_Silent_p.A1215A|CACNA1G_uc002irr.1_Silent_p.A1238A|CACNA1G_uc002irs.1_Silent_p.A1238A|CACNA1G_uc002irt.1_Silent_p.A1238A|CACNA1G_uc002irv.1_Silent_p.A1238A|CACNA1G_uc002irw.1_Silent_p.A1215A|CACNA1G_uc002iru.1_Silent_p.A1215A|CACNA1G_uc002irx.1_Silent_p.A1151A|CACNA1G_uc002iry.1_Silent_p.A1151A|CACNA1G_uc002irz.1_Silent_p.A1151A|CACNA1G_uc002isa.1_Silent_p.A1151A|CACNA1G_uc002isb.1_Silent_p.A1151A|CACNA1G_uc002isc.1_Silent_p.A1151A|CACNA1G_uc002isd.1_Silent_p.A1151A|CACNA1G_uc002ise.1_Silent_p.A1151A|CACNA1G_uc002isf.1_Silent_p.A1151A|CACNA1G_uc002isg.1_Silent_p.A1151A|CACNA1G_uc002ish.1_Silent_p.A1151A|CACNA1G_uc002isi.1_Silent_p.A1128A|CACNA1G_uc002isj.2_Translation_Start_Site	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1238	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632												
MPO	4353	broad.mit.edu	37	17	56355248	56355248	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:56355248G>T	uc002ivu.1	-	7	1321	c.1144C>A	c.(1144-1146)CTG>ATG	p.L382M		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642												
DDX42	11325	broad.mit.edu	37	17	61889307	61889307	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:61889307A>G	uc002jbu.2	+	15	1671	c.1414A>G	c.(1414-1416)ACA>GCA	p.T472A	DDX42_uc002jbv.2_Missense_Mutation_p.T472A|DDX42_uc002jbw.1_Missense_Mutation_p.T208A|DDX42_uc002jbx.2_Missense_Mutation_p.T208A|DDX42_uc002jby.2_Missense_Mutation_p.T18A	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	472					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						TGAAGATGTGACACAGATTGT	0.453												
BPTF	2186	broad.mit.edu	37	17	65944394	65944394	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:65944394T>C	uc002jgf.2	+	23	7959	c.7898T>C	c.(7897-7899)CTG>CCG	p.L2633P	BPTF_uc002jge.2_Missense_Mutation_p.L2616P|BPTF_uc002jgg.2_Missense_Mutation_p.L290P|BPTF_uc002jgh.2_Missense_Mutation_p.L92P	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2759					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)			AGAGCACTCCTGGACAAGGAT	0.478												
OTOP3	347741	broad.mit.edu	37	17	72943232	72943232	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:72943232G>T	uc010wrr.1	+	6	1282	c.1282G>T	c.(1282-1284)GGC>TGC	p.G428C	OTOP3_uc010wrq.1_Missense_Mutation_p.G410C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	428	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGCCAGATGGGCATCGCCTA	0.612												
ITGB4	3691	broad.mit.edu	37	17	73748363	73748363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73748363G>A	uc002jpg.2	+	31	4089	c.3902G>A	c.(3901-3903)CGC>CAC	p.R1301H	ITGB4_uc002jph.2_Missense_Mutation_p.R1301H|ITGB4_uc002jpi.3_Missense_Mutation_p.R1301H|ITGB4_uc002jpj.2_Missense_Mutation_p.R1301H|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1301	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAAGGCGCGCAACGGGGCC	0.637												
ITGB4	3691	broad.mit.edu	37	17	73750720	73750720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73750720T>C	uc002jpg.2	+	34	4569	c.4382T>C	c.(4381-4383)ATG>ACG	p.M1461T	ITGB4_uc002jph.2_Missense_Mutation_p.M1391T|ITGB4_uc002jpi.3_Missense_Mutation_p.M1391T|ITGB4_uc002jpj.2_Missense_Mutation_p.M1391T|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1461	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCACAGGATGACCACGACC	0.637												
TRIM65	201292	broad.mit.edu	37	17	73888350	73888350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73888350G>A	uc002jpx.2	-	3	778	c.742C>T	c.(742-744)CAG>TAG	p.Q248*		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	248						intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCGCACCTGCAGGAAGGTC	0.647												
EXOC7	23265	broad.mit.edu	37	17	74097459	74097459	+	Splice_Site	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:74097459T>C	uc002jqs.2	-	4	407	c.312_splice	c.e4-1	p.G104_splice	EXOC7_uc010dgv.1_Splice_Site_p.G51_splice|EXOC7_uc002jqq.2_Splice_Site_p.G104_splice|EXOC7_uc010wsw.1_Splice_Site_p.G104_splice|EXOC7_uc010wsx.1_Splice_Site_p.G104_splice|EXOC7_uc002jqr.2_Splice_Site_p.G104_splice|EXOC7_uc010wsv.1_Splice_Site_p.G63_splice|EXOC7_uc002jqu.2_Splice_Site_p.G104_splice|EXOC7_uc002jqv.2_Intron	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTGTGGGGCTGGGAAAGAAA	0.522												
PGS1	9489	broad.mit.edu	37	17	76395508	76395508	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:76395508G>A	uc002jvm.2	+	5	603	c.591G>A	c.(589-591)ACG>ACA	p.T197T	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_5'UTR|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	197					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCTTTCACACGCCGCACCTCC	0.597												
TBC1D16	125058	broad.mit.edu	37	17	77922698	77922698	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:77922698T>C	uc002jxj.2	-	8	1630	c.1514A>G	c.(1513-1515)GAA>GGA	p.E505G	TBC1D16_uc002jxh.2_Missense_Mutation_p.E143G|TBC1D16_uc002jxi.2_Missense_Mutation_p.E130G|TBC1D16_uc002jxk.1_Missense_Mutation_p.E143G	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	505	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGATTGTCTTCCCCCCGGAA	0.567												
RNF213	57674	broad.mit.edu	37	17	78321528	78321528	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:78321528C>T	uc002jyh.1	+	4	3835	c.3612C>T	c.(3610-3612)CTC>CTT	p.L1204L		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)			ACGTGGACCTCGGTCTGGGGA	0.557												
C17orf101	79701	broad.mit.edu	37	17	80369341	80369341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:80369341G>A	uc002keu.1	-	3	471	c.370C>T	c.(370-372)CGG>TGG	p.R124W	C17orf101_uc002ket.1_Missense_Mutation_p.R124W|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	124	Lumenal (Potential).					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1						CTGCGAATCCGCTCCGCTTCC	0.587												
THOC1	9984	broad.mit.edu	37	18	216495	216495	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:216495C>A	uc002kkj.3	-	19	1633	c.1593G>T	c.(1591-1593)AAG>AAT	p.K531N	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.K155N	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	531					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCGGTAATTCCTTGGCTAGCT	0.368												
LPIN2	9663	broad.mit.edu	37	18	2925364	2925364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:2925364G>A	uc002klo.2	-	14	2035	c.1796C>T	c.(1795-1797)CCG>CTG	p.P599L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	599					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATTCTCGGCCGGCCTGTTCAA	0.498												
PTPRM	5797	broad.mit.edu	37	18	8076526	8076526	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:8076526A>C	uc002knn.3	+	9	2018	c.1515A>C	c.(1513-1515)GAA>GAC	p.E505D	PTPRM_uc010dkv.2_Missense_Mutation_p.E505D|PTPRM_uc010wzl.1_Missense_Mutation_p.E292D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	505	Fibronectin type-III 3.|Extracellular (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)				AGTGGAGAGAACCAACTCAAA	0.348												
RAB12	201475	broad.mit.edu	37	18	8633208	8633208	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:8633208A>G	uc002knp.2	+	3	592	c.309A>G	c.(307-309)AGA>AGG	p.R103R		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	103					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GTCAGGAGAGATTCAACAGCA	0.403												
SEH1L	81929	broad.mit.edu	37	18	12955468	12955468	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:12955468A>G	uc002krr.2	+	3	307	c.169A>G	c.(169-171)AGT>GGT	p.S57G	SEH1L_uc002krq.2_Missense_Mutation_p.S57G	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	57	WD 2.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0						CCAGACACATAGTGGATCTGT	0.398												
C18orf1	753	broad.mit.edu	37	18	13621221	13621221	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:13621221T>C	uc002ksa.2	+	5	955	c.287T>C	c.(286-288)TTC>TCC	p.F96S	C18orf1_uc002ksb.2_Missense_Mutation_p.F96S|C18orf1_uc002kse.2_Missense_Mutation_p.F59S|C18orf1_uc002ksf.2_Missense_Mutation_p.F59S|C18orf1_uc002ksg.1_Missense_Mutation_p.F19S|C18orf1_uc002ksh.1_Missense_Mutation_p.F38S|C18orf1_uc002ksi.1_Missense_Mutation_p.F38S	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	96	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		ACGCGGTCCTTCATCAACCGC	0.627												
RBBP8	5932	broad.mit.edu	37	18	20570945	20570945	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:20570945T>G	uc002ktw.2	+	10	1184	c.853T>G	c.(853-855)TGT>GGT	p.C285G	RBBP8_uc002kty.2_Missense_Mutation_p.C285G|RBBP8_uc002ktz.2_Missense_Mutation_p.C285G|RBBP8_uc002kua.2_Missense_Mutation_p.C285G|RBBP8_uc002ktx.1_Missense_Mutation_p.C285G	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	285					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCTCTACCACTGTCTGGAAGG	0.328								Direct_reversal_of_damage|Homologous_recombination				
CHST9	83539	broad.mit.edu	37	18	24496988	24496988	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:24496988G>A	uc002kwd.2	-	5	765	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Silent_p.Y104Y|CHST9_uc002kwe.2_Silent_p.Y189Y	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	189	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TCACCCCACCGTATTTCTTGC	0.368												
DSC2	1824	broad.mit.edu	37	18	28654723	28654723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:28654723C>T	uc002kwl.3	-	12	2268	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	DSC2_uc002kwk.3_Missense_Mutation_p.G605D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAAGGGTGGGCCATGGATAGG	0.413												
KIAA1012	22878	broad.mit.edu	37	18	29410772	29410772	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:29410772A>G	uc002kxc.3	-	29	4618	c.4254T>C	c.(4252-4254)TTT>TTC	p.F1418F	KIAA1012_uc002kxb.3_Silent_p.F1364F|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1418					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GACTTGTTTCAAACACTGTAA	0.403												
ASXL3	80816	broad.mit.edu	37	18	31319536	31319536	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:31319536C>A	uc010dmg.1	+	11	2223	c.2168C>A	c.(2167-2169)CCT>CAT	p.P723H	ASXL3_uc002kxq.2_Missense_Mutation_p.P430H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	723	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TCTGACTTACCTTTAACATCA	0.408												
ASXL3	80816	broad.mit.edu	37	18	31325381	31325381	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:31325381G>A	uc010dmg.1	+	12	5624	c.5569G>A	c.(5569-5571)GTG>ATG	p.V1857M	ASXL3_uc002kxq.2_Missense_Mutation_p.V1564M	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGTTAAAGGGGTGCCTTGTGT	0.453												
MOCOS	55034	broad.mit.edu	37	18	33800060	33800060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:33800060C>T	uc002kzq.3	+	9	1863	c.1840C>T	c.(1840-1842)CGG>TGG	p.R614W		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	614					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)	GCTATATGACCGGAGCTGGAT	0.537												
PSTPIP2	9050	broad.mit.edu	37	18	43585486	43585486	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:43585486T>C	uc002lbp.3	-	6	462	c.366A>G	c.(364-366)ATA>ATG	p.I122M	PSTPIP2_uc002lbq.3_Missense_Mutation_p.I122M	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	122	Potential.					membrane				ovary(1)	1						TAGCATCCATTATGAGCTCTG	0.303												
KIAA0427	9811	broad.mit.edu	37	18	46385794	46385794	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:46385794T>G	uc002ldc.2	+	12	1946	c.1661T>G	c.(1660-1662)ATG>AGG	p.M554R	KIAA0427_uc002ldd.2_Missense_Mutation_p.M556R|KIAA0427_uc002lde.3_Missense_Mutation_p.M183R	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	554	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CGGGACAAGATGCTGTGCCCC	0.627												
MAPK4	5596	broad.mit.edu	37	18	48190611	48190611	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:48190611C>T	uc002lev.2	+	2	1283	c.283C>T	c.(283-285)CTG>TTG	p.L95L	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Silent_p.L95L	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	95	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCAGGGTGAGCTGTTCAAGTT	0.602												
ALPK2	115701	broad.mit.edu	37	18	56247010	56247010	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:56247010G>A	uc002lhj.3	-	4	1212	c.998C>T	c.(997-999)TCT>TTT	p.S333F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	333							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CATAACATCAGAACATTCCAG	0.433											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCBE1	147372	broad.mit.edu	37	18	57103367	57103367	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:57103367G>A	uc002lib.2	-	11	1064	c.994C>T	c.(994-996)CCT>TCT	p.P332S	CCBE1_uc010dpq.2_Missense_Mutation_p.P61S|CCBE1_uc002lia.2_Missense_Mutation_p.P185S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	332	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)				AAAGAACCAGGGGGTCCCTGT	0.537												
CDH20	28316	broad.mit.edu	37	18	59157845	59157845	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59157845T>C	uc010dps.1	+	1	71	c.59T>C	c.(58-60)TTG>TCG	p.L20S	CDH20_uc002lif.2_Missense_Mutation_p.L14S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	20					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GGCATGTCCTTGTACTTCTGG	0.488												
CDH20	28316	broad.mit.edu	37	18	59221588	59221588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59221588C>T	uc010dps.1	+	11	2078	c.2066C>T	c.(2065-2067)GCG>GTG	p.A689V	CDH20_uc002lif.2_Missense_Mutation_p.A683V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	689	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCCCGGGAGGCGCAGGCGGGG	0.677												
CDH20	28316	broad.mit.edu	37	18	59221697	59221697	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59221697C>T	uc010dps.1	+	11	2187	c.2175C>T	c.(2173-2175)TAC>TAT	p.Y725Y	CDH20_uc002lif.2_Silent_p.Y719Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	725	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCCACAGCTACGTGCTGGCCA	0.657												
CTDP1	9150	broad.mit.edu	37	18	77477859	77477859	+	Missense_Mutation	SNP	G	G	A	rs142285723	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:77477859G>A	uc002lnh.1	+	10	2407	c.2260G>A	c.(2260-2262)GCC>ACC	p.A754T	CTDP1_uc002lni.1_Missense_Mutation_p.A754T|CTDP1_uc010drd.1_Missense_Mutation_p.A754T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	754					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCCCCCACCGCCTTGTTCCA	0.682												
SBNO2	22904	broad.mit.edu	37	19	1119609	1119609	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:1119609G>A	uc002lrk.3	-	13	1517	c.1279C>T	c.(1279-1281)CCT>TCT	p.P427S	SBNO2_uc002lrj.3_Missense_Mutation_p.P370S|SBNO2_uc010dse.2_Missense_Mutation_p.P420S|SBNO2_uc010xgj.1_Missense_Mutation_p.P370S|SBNO2_uc010dsf.2_Missense_Mutation_p.P370S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	427					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTTCCGAGGCTCAGAGGCA	0.637												
JSRP1	126306	broad.mit.edu	37	19	2255302	2255302	+	Silent	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:2255302T>A	uc002lvi.1	-	1	47	c.12A>T	c.(10-12)ACA>ACT	p.T4T	JSRP1_uc002lvj.1_Silent_p.T4T	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	4	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTCTGGTTGTCATGGACA	0.657												
FZR1	51343	broad.mit.edu	37	19	3527034	3527034	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:3527034C>G	uc010dtk.2	+	5	478	c.444C>G	c.(442-444)TAC>TAG	p.Y148*	FZR1_uc002lxt.2_Nonsense_Mutation_p.Y148*|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	148					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCCCTACTCCCTGTCTC	0.647												
PTPRS	5802	broad.mit.edu	37	19	5286136	5286136	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:5286136C>A	uc002mbv.2	-	2	250	c.16G>T	c.(16-18)GGC>TGC	p.G6C	PTPRS_uc002mbu.1_Missense_Mutation_p.G6C|PTPRS_uc010xin.1_Missense_Mutation_p.G6C|PTPRS_uc002mbw.2_Missense_Mutation_p.G6C|PTPRS_uc002mbx.2_Missense_Mutation_p.G6C|PTPRS_uc002mby.2_Missense_Mutation_p.G6C|PTPRS_uc002mbz.1_Missense_Mutation_p.G6C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	6					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGCCAGGGCCCCAGGTGGGC	0.667												
GTF2F1	2962	broad.mit.edu	37	19	6381412	6381412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:6381412C>T	uc002meq.2	-	9	1261	c.976G>A	c.(976-978)GAG>AAG	p.E326K	GTF2F1_uc010xjb.1_Missense_Mutation_p.E147K|GTF2F1_uc010xjc.1_Missense_Mutation_p.E241K	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	326	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						Gccttcttctcctcctcctcc	0.542												
ARHGEF18	23370	broad.mit.edu	37	19	7518449	7518449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7518449G>A	uc002mgi.2	+	7	1641	c.1388G>A	c.(1387-1389)GGC>GAC	p.G463D	ARHGEF18_uc010xjm.1_Missense_Mutation_p.G305D|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G305D|ARHGEF18_uc002mgj.1_Missense_Mutation_p.G106D	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	463					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TGTGAGAAGGGCCAGCGCCTC	0.552												
MCOLN1	57192	broad.mit.edu	37	19	7598461	7598461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7598461A>G	uc002mgo.2	+	13	1753	c.1628A>G	c.(1627-1629)CAG>CGG	p.Q543R	PNPLA6_uc002mgq.1_5'Flank|PNPLA6_uc010xjp.1_5'Flank|PNPLA6_uc002mgr.1_5'Flank|PNPLA6_uc010xjq.1_5'Flank|PNPLA6_uc002mgs.2_5'Flank|MCOLN1_uc002mgp.2_Missense_Mutation_p.Q508R	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	543					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						TACATCGCACAGTGCCAGGAC	0.692												
TIMM44	10469	broad.mit.edu	37	19	7998751	7998751	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7998751G>A	uc002miz.2	-	6	683	c.681C>T	c.(679-681)AAC>AAT	p.N227N	TIMM44_uc002mja.2_Translation_Start_Site|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	227					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						GTACCTACTCGTTTGGCTCAA	0.592												
FBN3	84467	broad.mit.edu	37	19	8176624	8176624	+	Missense_Mutation	SNP	C	C	T	rs143347714		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:8176624C>T	uc002mjf.2	-	31	4013	c.3992G>A	c.(3991-3993)CGG>CAG	p.R1331Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1331	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TGGGCTGCACCGGTGCTCCTG	0.617												
ZNF699	374879	broad.mit.edu	37	19	9406969	9406969	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:9406969C>T	uc002mlc.1	-	5	1111	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	371	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCGCTGAAGGCCTTCCCACAC	0.433												
TYK2	7297	broad.mit.edu	37	19	10463629	10463629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:10463629C>T	uc002moc.3	-	22	3551	c.3173G>A	c.(3172-3174)CGC>CAC	p.R1058H	TYK2_uc010dxe.2_Missense_Mutation_p.R873H	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1058	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCATCCTCGCGCACGCGGTA	0.657												
KANK2	25959	broad.mit.edu	37	19	11304155	11304155	+	Missense_Mutation	SNP	G	G	T	rs148328896	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11304155G>T	uc010dxv.2	-	6	1159	c.601C>A	c.(601-603)CAG>AAG	p.Q201K	KANK2_uc002mqm.2_Missense_Mutation_p.Q201K|KANK2_uc002mqo.3_Missense_Mutation_p.Q201K|KANK2_uc002mqp.1_Missense_Mutation_p.Q10K|KANK2_uc002mqq.2_Missense_Mutation_p.Q201K	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	201	Potential.										0						TCCTCCAGCTGCCGCAGCTTC	0.637												
RGL3	57139	broad.mit.edu	37	19	11508219	11508219	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11508219T>G	uc002mrp.2	-	17	1865	c.1801A>C	c.(1801-1803)AGC>CGC	p.S601R	RGL3_uc002mrn.2_Missense_Mutation_p.S365R|RGL3_uc002mrm.2_Missense_Mutation_p.S365R|RGL3_uc002mro.2_Missense_Mutation_p.S607R	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	601	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						ATTCGAGGGCTGCCCAGAGGC	0.652												
ZNF442	79973	broad.mit.edu	37	19	12460790	12460790	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:12460790T>A	uc002mtr.1	-	6	2220	c.1609A>T	c.(1609-1611)ATT>TTT	p.I537F	ZNF442_uc010xmk.1_Missense_Mutation_p.I468F	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	537	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						CCAGTGTGAATCCTTTCATGG	0.388												
C19orf57	79173	broad.mit.edu	37	19	14000035	14000035	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:14000035A>G	uc002mxl.1	-	6	1693	c.1634T>C	c.(1633-1635)CTG>CCG	p.L545P	C19orf57_uc002mxk.1_Missense_Mutation_p.L427P|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	545					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGAGGCGTCCAGGGCATCCTG	0.612												
OR7C1	26664	broad.mit.edu	37	19	14910600	14910600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:14910600C>T	uc010xnz.1	-	1	349	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TAGGCCATCACGGTCAAGAGT	0.483												
ANO8	57719	broad.mit.edu	37	19	17438659	17438659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:17438659C>T	uc002ngf.2	-	14	2416	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	753	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CCGAACTGCACGAACATCTCC	0.612												
UNC13A	23025	broad.mit.edu	37	19	17759368	17759368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:17759368G>A	uc002nhd.2	-	16	1952	c.1952C>T	c.(1951-1953)ACG>ATG	p.T651M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTAGGTGGGCGTGGTGGCCGT	0.602												
WDR88	126248	broad.mit.edu	37	19	33647411	33647411	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:33647411T>C	uc002nui.2	+	7	1038	c.960T>C	c.(958-960)CAT>CAC	p.H320H		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	320	WD 6.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGCAGGGCCATGAAGGTTCTG	0.488												
WDR62	284403	broad.mit.edu	37	19	36594075	36594075	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:36594075G>T	uc002odc.2	+	29	3556	c.3465G>T	c.(3463-3465)AAG>AAT	p.K1155N	WDR62_uc002odd.2_Missense_Mutation_p.K1160N	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1155	WD 14.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGCAGGGAAGGCTGAAGAGA	0.662												
ZNF461	92283	broad.mit.edu	37	19	37130098	37130098	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:37130098T>A	uc002oem.2	-	6	1377	c.1149A>T	c.(1147-1149)AAA>AAT	p.K383N	ZNF461_uc002oen.2_Missense_Mutation_p.K352N|ZNF461_uc010xtj.1_Missense_Mutation_p.K360N	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCATAGGGTTTCTCACCAG	0.398												
ZNF568	374900	broad.mit.edu	37	19	37440970	37440970	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:37440970T>G	uc002ofc.2	+	7	1430	c.915T>G	c.(913-915)CCT>CCG	p.P305P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.P229P|ZNF568_uc010efe.2_Silent_p.P229P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAGAAACCTTATGCATGTA	0.378												
RYR1	6261	broad.mit.edu	37	19	39038982	39038982	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39038982G>T	uc002oit.2	+	89	12334	c.12204G>T	c.(12202-12204)AAG>AAT	p.K4068N	RYR1_uc002oiu.2_Missense_Mutation_p.K4063N|RYR1_uc002oiv.1_Missense_Mutation_p.K977N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4068					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)	TGAAACTCAAGGACATTGTGG	0.537												
HNRNPL	3191	broad.mit.edu	37	19	39322070	39322070	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39322070G>T	uc002ojj.1	-	6	846	c.766C>A	c.(766-768)CTC>ATC	p.L256I	ECH1_uc002oji.2_Missense_Mutation_p.L47I|ECH1_uc010xuk.1_Missense_Mutation_p.L47I|HNRNPL_uc010ege.1_Intron	NM_001005335	NP_001005335	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	Error:Variant_position_missing_in_P14866_after_alignment					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTTCACCGAGGGCTACTCCG	0.577												
C19orf47	126526	broad.mit.edu	37	19	40828262	40828262	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:40828262G>T	uc002oni.3	-	9	797	c.796C>A	c.(796-798)CTG>ATG	p.L266M	C19orf47_uc002ong.2_Missense_Mutation_p.L125M|C19orf47_uc002onh.2_Missense_Mutation_p.L199M	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	266										ovary(1)|skin(1)	2			Lung(22;0.000636)			GTGGCCCCCAGGCGGCTGAAG	0.542												
ZNF234	10780	broad.mit.edu	37	19	44661951	44661951	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:44661951A>C	uc002oym.2	+	6	2089	c.1782A>C	c.(1780-1782)AAA>AAC	p.K594N	ZNF234_uc002oyl.3_Missense_Mutation_p.K594N	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CAGGAGAAAAACCCTATACAT	0.488												
SYMPK	8189	broad.mit.edu	37	19	46351244	46351244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46351244G>A	uc002pdn.2	-	7	687	c.442C>T	c.(442-444)CGG>TGG	p.R148W	SYMPK_uc002pdo.1_Missense_Mutation_p.R148W|SYMPK_uc002pdp.1_Missense_Mutation_p.R148W|SYMPK_uc002pdq.1_Missense_Mutation_p.R148W	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	148					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTAATGACCCGTGACTTTACC	0.547												
PGLYRP1	8993	broad.mit.edu	37	19	46522617	46522617	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46522617G>A	uc002pdx.1	-	3	514	c.470C>T	c.(469-471)GCT>GTT	p.A157V		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGCTCCCTGAGCCACACCGCA	0.632												
PNMAL2	57469	broad.mit.edu	37	19	46998154	46998154	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46998154G>A	uc002pes.2	-	1	1016	c.569C>T	c.(568-570)GCG>GTG	p.A190V	uc002peu.1_Missense_Mutation_p.A89T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	190										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)		CTCACTCCTCGCGGGAGCAGA	0.647												
CCDC114	93233	broad.mit.edu	37	19	48807230	48807230	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:48807230A>G	uc002pir.2	-	7	1405	c.722T>C	c.(721-723)CTG>CCG	p.L241P	CCDC114_uc002piq.2_Missense_Mutation_p.L50P|CCDC114_uc002pio.2_Missense_Mutation_p.L278P|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.L278P|CCDC114_uc002piu.1_Missense_Mutation_p.L278P	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	241										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACGCTTCTCCAGGACATCGGG	0.642												
PTOV1	53635	broad.mit.edu	37	19	50363375	50363375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50363375C>T	uc002pqf.1	+	11	1344	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.G336G|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	392	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGCATCCGGCGTGTCATTGC	0.587												
NUP62	23636	broad.mit.edu	37	19	50412513	50412513	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50412513T>C	uc002pqx.2	-	2	656	c.552A>G	c.(550-552)GCA>GCG	p.A184A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.A184A|NUP62_uc002pqz.2_Silent_p.A184A|NUP62_uc002pra.2_Silent_p.A184A|NUP62_uc002prb.2_Silent_p.A184A|NUP62_uc002prc.2_Silent_p.A184A	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	184	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACGTGGCAGGTGCCGTGGGCT	0.627												
VRK3	51231	broad.mit.edu	37	19	50491647	50491647	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50491647A>G	uc002prg.2	-	12	1297	c.1199T>C	c.(1198-1200)ATC>ACC	p.I400T	VRK3_uc002prh.1_Missense_Mutation_p.I400T|VRK3_uc002pri.1_Missense_Mutation_p.I350T|VRK3_uc010ens.2_Missense_Mutation_p.I400T|VRK3_uc010ybl.1_Missense_Mutation_p.I350T|VRK3_uc010ybm.1_Missense_Mutation_p.I169T|VRK3_uc002prj.1_Missense_Mutation_p.I350T|VRK3_uc002prk.1_Missense_Mutation_p.I400T|VRK3_uc010ent.1_Missense_Mutation_p.I156T|VRK3_uc002prl.2_Missense_Mutation_p.I400T	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	400	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGCTTCATGATGTCCTCAGT	0.582												
NR1H2	7376	broad.mit.edu	37	19	50882025	50882025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50882025G>A	uc010enw.2	+	7	998	c.722G>A	c.(721-723)CGC>CAC	p.R241H	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R240H|NR1H2_uc002psa.3_Missense_Mutation_p.R143H	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	240	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGCAACAAACGCTCCTTCTCC	0.617												
SHANK1	50944	broad.mit.edu	37	19	51165362	51165362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51165362G>A	uc002psx.1	-	23	6365	c.6346C>T	c.(6346-6348)CGA>TGA	p.R2116*	SHANK1_uc002psw.1_Nonsense_Mutation_p.R1500*	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2116	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AACTGGGCTCGGTGCTCCGCC	0.632												
SHANK1	50944	broad.mit.edu	37	19	51190039	51190039	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51190039C>T	uc002psx.1	-	19	2439	c.2420G>A	c.(2419-2421)AGC>AAC	p.S807N	SHANK1_uc002psw.1_Missense_Mutation_p.S191N	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	807					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTTCTCCATGCTGGGCACCGG	0.577												
SHANK1	50944	broad.mit.edu	37	19	51191203	51191203	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51191203A>G	uc002psx.1	-	17	2304	c.2285T>C	c.(2284-2286)ATG>ACG	p.M762T	SHANK1_uc002psw.1_Missense_Mutation_p.M146T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	762					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCCTCATCCATGTCCGGGTG	0.637												
SIGLEC6	946	broad.mit.edu	37	19	52034212	52034212	+	Silent	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:52034212G>T	uc002pwy.2	-	3	591	c.429C>A	c.(427-429)GCC>GCA	p.A143A	SIGLEC6_uc002pwz.2_Silent_p.A143A|SIGLEC6_uc002pxa.2_Silent_p.A143A|SIGLEC6_uc010ydb.1_Silent_p.A96A|SIGLEC6_uc010ydc.1_Silent_p.A132A|SIGLEC6_uc010eoz.1_Intron|SIGLEC6_uc010epb.1_Silent_p.A96A|SIGLEC6_uc010epa.1_Silent_p.A132A	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	143	Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGGTCAGGGCTGGTGAGG	0.622												
ZNF766	90321	broad.mit.edu	37	19	52794408	52794408	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:52794408T>C	uc002pyr.1	+	4	1407	c.1364T>C	c.(1363-1365)GTA>GCA	p.V455A	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Intron	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	455	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TCATGGTTTGTACAGCATCAG	0.408												
ZNF808	388558	broad.mit.edu	37	19	53057126	53057126	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:53057126G>A	uc010epq.1	+	5	1134	c.957G>A	c.(955-957)GAG>GAA	p.E319E	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	319	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGTAATGAGTGTGGCAAGG	0.388												
NLRP12	91662	broad.mit.edu	37	19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:54314476C>T	uc002qch.3	-	3	657	c.437G>A	c.(436-438)CGC>CAC	p.R146H	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R146H|NLRP12_uc002qcj.3_Missense_Mutation_p.R146H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567												
GP6	51206	broad.mit.edu	37	19	55530055	55530055	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:55530055A>G	uc002qik.2	-	6	717	c.689T>C	c.(688-690)CTG>CCG	p.L230P	GP6_uc002qil.2_Missense_Mutation_p.L230P|GP6_uc010esq.2_Missense_Mutation_p.L212P	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	230	Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGAGACGGTCAGTTCAGCGGT	0.458												
BRSK1	84446	broad.mit.edu	37	19	55812988	55812988	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:55812988A>G	uc002qkg.2	+	8	1064	c.787A>G	c.(787-789)AGG>GGG	p.R263G	BRSK1_uc002qkf.2_Missense_Mutation_p.R279G|BRSK1_uc002qkh.2_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	263	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCCTCCTGAGGGGAATGAT	0.597												
PXDN	7837	broad.mit.edu	37	2	1647304	1647304	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:1647304G>C	uc002qxa.2	-	19	3852	c.3788C>G	c.(3787-3789)ACT>AGT	p.T1263S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1263					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTTGATCTGAGTCAGCTGGGC	0.592												
GREB1	9687	broad.mit.edu	37	2	11755363	11755363	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:11755363A>G	uc002rbk.1	+	20	3569	c.3269A>G	c.(3268-3270)GAT>GGT	p.D1090G	GREB1_uc002rbp.1_Missense_Mutation_p.D88G	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1090						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTGGAGAGTGATGCTGAGAAG	0.582												
GEN1	348654	broad.mit.edu	37	2	17962826	17962826	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:17962826A>G	uc002rct.2	+	14	2420	c.2347A>G	c.(2347-2349)ATG>GTG	p.M783V	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.M783V|GEN1_uc002rcu.2_Missense_Mutation_p.M783V	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	783					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAAGTTGATATGCAAACCAC	0.393								Homologous_recombination				
DPYSL5	56896	broad.mit.edu	37	2	27157527	27157527	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:27157527C>T	uc002rhu.3	+	8	1030	c.872C>T	c.(871-873)GCG>GTG	p.A291V	DPYSL5_uc002rhv.3_Missense_Mutation_p.A291V	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	291					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTCCCACGCGGCTGCCTAT	0.582												
ABHD1	84696	broad.mit.edu	37	2	27351926	27351926	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:27351926G>T	uc002rit.2	+	3	549	c.389G>T	c.(388-390)GGC>GTC	p.G130V	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	130						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTTCCTGGCATCACTGGC	0.577												
WDR43	23160	broad.mit.edu	37	2	29135551	29135551	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:29135551T>G	uc002rmo.2	+	4	613	c.581T>G	c.(580-582)GTT>GGT	p.V194G	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	194	WD 4.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAACTATGGGTTTTGGAGACC	0.388												
C2orf71	388939	broad.mit.edu	37	2	29293519	29293519	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:29293519C>T	uc002rmt.1	-	1	3609	c.3609G>A	c.(3607-3609)CCG>CCA	p.P1203P		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1203					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGGGAGGCTGCGGTCGGCCAC	0.632												
CEBPZ	10153	broad.mit.edu	37	2	37455474	37455474	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:37455474T>C	uc002rpz.2	-	2	892	c.862A>G	c.(862-864)ACT>GCT	p.T288A		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	288					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCTTTGAAAGTATCCAAGGCC	0.443												
SFRS7	6432	broad.mit.edu	37	2	38977264	38977264	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:38977264T>C	uc002rqz.2	-	2	339	c.101A>G	c.(100-102)TAT>TGT	p.Y34C	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.Y34C|GEMIN6_uc002rrb.2_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	34	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)				TAAAGGACCATAATAACTGAA	0.433												
THUMPD2	80745	broad.mit.edu	37	2	39996850	39996850	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:39996850C>A	uc002rru.2	-	3	709	c.672G>T	c.(670-672)CAG>CAT	p.Q224H	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Intron|THUMPD2_uc010ynu.1_Missense_Mutation_p.Q224H	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	224	THUMP.						methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				GCAAGCATACCTGTGCAGTGA	0.259												
PKDCC	91461	broad.mit.edu	37	2	42284800	42284800	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:42284800A>G	uc002rsg.2	+	7	1633	c.1454A>G	c.(1453-1455)AAG>AGG	p.K485R		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	485	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GATCCCAACAAGACCACATAT	0.572												
EML4	27436	broad.mit.edu	37	2	42513521	42513521	+	Splice_Site	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:42513521T>C	uc002rsi.2	+	10	1384	c.1122_splice	c.e10+2	p.A374_splice	EML4_uc010fap.2_Splice_Site_p.A316_splice|EML4_uc002rsj.2_Splice_Site_p.A63_splice	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						TCAAAAGCAGTAAGTAACAAT	0.403			T	ALK	NSCLC							
PAPOLG	64895	broad.mit.edu	37	2	61022147	61022147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:61022147C>T	uc002sai.2	+	21	2335	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C	PAPOLG_uc002saj.2_Missense_Mutation_p.R391C|PAPOLG_uc002sak.2_Missense_Mutation_p.R237C|PAPOLG_uc010fch.2_Missense_Mutation_p.R369C	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	702					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGATACATCACGCAAAAAGGT	0.308												
XPO1	7514	broad.mit.edu	37	2	61721063	61721063	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:61721063G>T	uc002sbj.2	-	12	1939	c.1211C>A	c.(1210-1212)CCC>CAC	p.P404H	XPO1_uc010fcl.2_Missense_Mutation_p.P400H|XPO1_uc010ypn.1_Missense_Mutation_p.P400H|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.P51H	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	404	HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTGTCTCCTGGGAGGAACATC	0.433												
PELI1	57162	broad.mit.edu	37	2	64327600	64327600	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:64327600A>G	uc002scs.3	-	3	4274	c.235T>C	c.(235-237)TAT>CAT	p.Y79H	PELI1_uc002sct.3_Missense_Mutation_p.Y79H|PELI1_uc002scr.3_5'Flank	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	79					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						GATAAAGTATATGATATGCTA	0.338												
MPHOSPH10	10199	broad.mit.edu	37	2	71377061	71377061	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:71377061A>G	uc002sht.1	+	11	2314	c.1962A>G	c.(1960-1962)GTA>GTG	p.V654V		NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	654	Potential.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						AAGATCAAGTAAAAATGCAAA	0.289												
ALMS1	7840	broad.mit.edu	37	2	73678505	73678505	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:73678505C>T	uc002sje.1	+	10	4965	c.4854C>T	c.(4852-4854)TCC>TCT	p.S1618S	ALMS1_uc002sjf.1_Silent_p.S1574S|ALMS1_uc002sjg.2_Silent_p.S1004S|ALMS1_uc002sjh.1_Silent_p.S1004S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1616	23.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTTTAGGTTCCAGTGCACTTG	0.468												
LOXL3	84695	broad.mit.edu	37	2	74776634	74776634	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:74776634G>A	uc002smp.1	-	4	626	c.554C>T	c.(553-555)ACG>ATG	p.T185M	LOXL3_uc002smo.1_Translation_Start_Site|LOXL3_uc010ffm.1_Missense_Mutation_p.T185M|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	185	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CAGCCCCTCCGTCACGGGCAG	0.672												
POLR1A	25885	broad.mit.edu	37	2	86315957	86315957	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:86315957C>A	uc002sqs.2	-	5	956	c.577G>T	c.(577-579)GCT>TCT	p.A193S	POLR1A_uc002sqv.2_Missense_Mutation_p.A193S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	193					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						CAGAAGAGAGCAATGAGCTTG	0.453												
ARID5A	10865	broad.mit.edu	37	2	97217702	97217702	+	Silent	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:97217702A>C	uc002swe.2	+	7	1537	c.1437A>C	c.(1435-1437)GCA>GCC	p.A479A	ARID5A_uc010yuq.1_Silent_p.A427A|ARID5A_uc002swf.2_Silent_p.A315A|ARID5A_uc002swg.2_Silent_p.A427A	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	479					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						CCAAACCTGCAGGGTCCGGCC	0.657												
CHST10	9486	broad.mit.edu	37	2	101010201	101010201	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:101010201C>T	uc002tam.2	-	7	936	c.577G>A	c.(577-579)GAA>AAA	p.E193K		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	193	PAPS (Probable).|Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						ATAAGTCTTTCGAAGGGATCT	0.393												
TBC1D8	11138	broad.mit.edu	37	2	101656720	101656720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:101656720G>A	uc010fiv.2	-	6	1086	c.955C>T	c.(955-957)CGG>TGG	p.R319W	TBC1D8_uc010yvw.1_Missense_Mutation_p.R334W|TBC1D8_uc002tau.3_Missense_Mutation_p.R76W	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	319	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GCGAACATCCGCCCCGTGGTG	0.572												
RANBP2	5903	broad.mit.edu	37	2	109400209	109400209	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:109400209T>C	uc002tem.3	+	29	9653	c.9527T>C	c.(9526-9528)CTG>CCG	p.L3176P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3176	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GTTATAACACTGAAGAAAGCA	0.348												
SEPT10	151011	broad.mit.edu	37	2	110332309	110332309	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:110332309A>G	uc002tew.2	-	5	828	c.449T>C	c.(448-450)TTT>TCT	p.F150S	SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.F127S|SEPT10_uc002tey.2_Missense_Mutation_p.F150S|SEPT10_uc010ywv.1_Missense_Mutation_p.F16S|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	150					cell cycle|cell division	septin complex	GTP binding				0						ATAGGCCTCAAACTGAGCATC	0.378												
MAP3K2	10746	broad.mit.edu	37	2	128065338	128065338	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:128065338C>T	uc002toj.1	-	16	1742	c.1677G>A	c.(1675-1677)CCG>CCA	p.P559P		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	559	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CAGCCCAAGGCGGCTTTTCAG	0.408												
WDR33	55339	broad.mit.edu	37	2	128477098	128477098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:128477098C>T	uc002tpg.1	-	16	2684	c.2501G>A	c.(2500-2502)CGA>CAA	p.R834Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	834					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCATGCCTCGGATCTCCTG	0.627												
POTEF	728378	broad.mit.edu	37	2	130832662	130832662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:130832662G>A	uc010fmh.2	-	17	2783	c.2383C>T	c.(2383-2385)CGT>TGT	p.R795C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	795	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						GGAGCCACACGCAGCTCGTTG	0.567												
ARHGEF4	50649	broad.mit.edu	37	2	131803636	131803636	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:131803636G>A	uc002tsa.1	+	14	2467	c.1947G>A	c.(1945-1947)ACG>ACA	p.T649T	ARHGEF4_uc010fmw.1_Silent_p.T797T|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Silent_p.T589T|ARHGEF4_uc002tsc.1_Silent_p.T192T	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	649					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTACCTGACGCGCCAGAAGC	0.667												
PLEKHB2	55041	broad.mit.edu	37	2	131890528	131890528	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:131890528T>C	uc002tsg.3	+	6	947	c.387T>C	c.(385-387)CCT>CCC	p.P129P	PLEKHB2_uc002tsh.2_Silent_p.P129P|PLEKHB2_uc002tsj.3_Silent_p.P129P|PLEKHB2_uc002tsf.3_Silent_p.P129P|PLEKHB2_uc010zao.1_Silent_p.P79P|PLEKHB2_uc010zap.1_Silent_p.P129P|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Silent_p.P170P	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	129						membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTTCCTCACCTCCACCATACA	0.602												
GPR39	2863	broad.mit.edu	37	2	133174707	133174707	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:133174707T>C	uc002ttl.2	+	1	561	c.92T>C	c.(91-93)ATC>ACC	p.I31T		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	31	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TGGATCAAAATCACCCTTATT	0.537												
SCN2A	6326	broad.mit.edu	37	2	166246213	166246213	+	Missense_Mutation	SNP	C	C	T	rs112098080		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:166246213C>T	uc002udc.2	+	27	6187	c.5897C>T	c.(5896-5898)ACG>ATG	p.T1966M	SCN2A_uc002udd.2_Missense_Mutation_p.T1966M|SCN2A_uc002ude.2_Missense_Mutation_p.T1966M	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1966					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ACCGATATGACGCCTTCCACC	0.383												
XIRP2	129446	broad.mit.edu	37	2	168108385	168108385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:168108385G>A	uc002udx.2	+	8	10501	c.10483G>A	c.(10483-10485)GGA>AGA	p.G3495R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G3320R|XIRP2_uc010fpq.2_Missense_Mutation_p.G3273R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3320					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAGGCCTGGGATATGCAAC	0.383												
MYO3B	140469	broad.mit.edu	37	2	171242744	171242744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:171242744G>A	uc002ufy.2	+	13	1479	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	MYO3B_uc002ufv.2_Missense_Mutation_p.A433T|MYO3B_uc010fqb.1_Missense_Mutation_p.A433T|MYO3B_uc002ufz.2_Missense_Mutation_p.A446T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	446	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GACAGAAAGCGCCCACCTGAT	0.448												
DYNC1I2	1781	broad.mit.edu	37	2	172546719	172546719	+	Silent	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:172546719G>T	uc002uha.1	+	2	219	c.54G>T	c.(52-54)CTG>CTT	p.L18L	DYNC1I2_uc002uhc.2_Silent_p.L18L|DYNC1I2_uc002uhb.1_Silent_p.L18L|DYNC1I2_uc010zds.1_Silent_p.L18L|DYNC1I2_uc002uhd.1_Silent_p.L18L|DYNC1I2_uc002uhe.1_Silent_p.L18L|DYNC1I2_uc002uhf.1_Silent_p.L18L|DYNC1I2_uc010zdt.1_Silent_p.L18L	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	18					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGCAGCGACTGGCCCAAATCa	0.264												
SLC25A12	8604	broad.mit.edu	37	2	172650186	172650186	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:172650186A>T	uc002uhh.2	-	14	1486	c.1397T>A	c.(1396-1398)GTC>GAC	p.V466D	SLC25A12_uc010fqh.2_Missense_Mutation_p.V359D	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	466	Solcar 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CAGGGCGCTGACTCTGGGTCC	0.463												
MSTN	2660	broad.mit.edu	37	2	190925074	190925074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:190925074G>A	uc002urp.2	-	2	594	c.461C>T	c.(460-462)GCC>GTC	p.A154V		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	154					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CCATAGTTGGGCCTTTACTAC	0.353												
KCTD18	130535	broad.mit.edu	37	2	201355178	201355178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:201355178G>A	uc002uvs.2	-	7	1443	c.926C>T	c.(925-927)GCG>GTG	p.A309V	KCTD18_uc002uvt.2_Missense_Mutation_p.A309V	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	309						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						GTTTGCTGTCGCCCCAGCCGA	0.592												
CASP8	841	broad.mit.edu	37	2	202149988	202149988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:202149988G>T	uc002uxr.1	+	9	1461	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	CASP8_uc002uxp.1_Nonsense_Mutation_p.G435*|CASP8_uc002uxq.1_Nonsense_Mutation_p.G403*|CASP8_uc002uxt.1_Nonsense_Mutation_p.G477*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.G403*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.G334*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	418					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CCCTGCAGAGGGAACCTGGTA	0.512										HNSCC(4;0.00038)		
ZDBF2	57683	broad.mit.edu	37	2	207174987	207174987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:207174987C>T	uc002vbp.2	+	5	5985	c.5735C>T	c.(5734-5736)GCC>GTC	p.A1912V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1912							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGTCAGTGGCCTTAGATAAA	0.483												
FAM119A	151194	broad.mit.edu	37	2	208477826	208477826	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:208477826C>T	uc002vcf.2	-	4	761	c.601G>A	c.(601-603)GAA>AAA	p.E201K	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.E201K|FAM119A_uc002vcg.3_Missense_Mutation_p.E201K	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	201						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		ACATCTTTTTCAGGATCGTAG	0.373												
ERBB4	2066	broad.mit.edu	37	2	212285296	212285296	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:212285296T>C	uc002veg.1	-	25	3103	c.3005A>G	c.(3004-3006)AAG>AGG	p.K1002R	ERBB4_uc002veh.1_Missense_Mutation_p.K1002R|ERBB4_uc010zji.1_Missense_Mutation_p.K992R|ERBB4_uc010zjj.1_Missense_Mutation_p.K992R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1002	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)		CTGAAAGAACTTGCTGTCATT	0.408										TSP Lung(8;0.080)		
BARD1	580	broad.mit.edu	37	2	215645475	215645475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:215645475T>C	uc002veu.2	-	4	1258	c.1123A>G	c.(1123-1125)ACA>GCA	p.T375A	BARD1_uc010zjm.1_Missense_Mutation_p.T231A	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	375					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCCCTGATGTACCACCAACT	0.423									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
MARCH4	57574	broad.mit.edu	37	2	217234942	217234942	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:217234942G>C	uc002vgb.2	-	1	1809	c.42C>G	c.(40-42)TGC>TGG	p.C14W		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	14						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CGGAGCAGCAGCACCACCACC	0.617												
TMEM198	130612	broad.mit.edu	37	2	220414535	220414535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:220414535G>T	uc002vme.2	+	6	1627	c.1042G>T	c.(1042-1044)GGA>TGA	p.G348*	TMEM198_uc002vmf.2_Nonsense_Mutation_p.G348*|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	348						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)		TGGGTCCCGGGGACCTCTGAC	0.607												
STK11IP	114790	broad.mit.edu	37	2	220474096	220474096	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:220474096C>A	uc002vml.2	+	17	2014	c.1971C>A	c.(1969-1971)GCC>GCA	p.A657A	STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Silent_p.A646A	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	657					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGCTTGCCGTGTTGACCC	0.642												
TRIP12	9320	broad.mit.edu	37	2	230652352	230652352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:230652352G>A	uc002vpw.1	-	32	4748	c.4639C>T	c.(4639-4641)CGG>TGG	p.R1547W	TRIP12_uc002vpx.1_Missense_Mutation_p.R1595W|TRIP12_uc002vpy.1_Missense_Mutation_p.R1277W	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1547	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCATTTGCCGGGTATCAAAA	0.343												
CXCR7	57007	broad.mit.edu	37	2	237489246	237489246	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:237489246G>A	uc010fyq.2	+	3	368	c.138G>A	c.(136-138)ACG>ACA	p.T46T	CXCR7_uc002vwd.2_Silent_p.T46T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	46	Helical; Name=1; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TGCTCTACACGCTCTCCTTCA	0.532												
PER2	8864	broad.mit.edu	37	2	239159277	239159277	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:239159277T>C	uc002vyc.2	-	21	3619	c.3382A>G	c.(3382-3384)ATT>GTT	p.I1128V	PER2_uc010znv.1_Missense_Mutation_p.I1128V	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1128					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGCACTTAATGAAATGCTCA	0.478												
KIF1A	547	broad.mit.edu	37	2	241700703	241700703	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:241700703C>A	uc002vzy.2	-	23	2327	c.2181G>T	c.(2179-2181)TGG>TGT	p.W727C	KIF1A_uc010fzk.2_Missense_Mutation_p.W736C|KIF1A_uc002vzz.1_Missense_Mutation_p.W736C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	727					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGCGTTGCCCCACAGCAGGT	0.602												
KIF1A	547	broad.mit.edu	37	2	241726673	241726673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:241726673C>T	uc002vzy.2	-	5	570	c.424G>A	c.(424-426)GTG>ATG	p.V142M	KIF1A_uc010fzk.2_Missense_Mutation_p.V142M|KIF1A_uc002vzz.1_Missense_Mutation_p.V142M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	142	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCTACCTCCACGGAGTAGGAC	0.632												
SIGLEC1	6614	broad.mit.edu	37	20	3686656	3686656	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:3686656C>T	uc002wja.2	-	3	441	c.441G>A	c.(439-441)CCG>CCA	p.P147P	SIGLEC1_uc002wiz.3_Silent_p.P147P|SIGLEC1_uc002wjc.2_Silent_p.P58P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	147	Ig-like C2-type 1.|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						GAAGCTCCACCGGGGAGGCAA	0.632												
ADRA1D	146	broad.mit.edu	37	20	4202221	4202221	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:4202221G>A	uc002wkr.2	-	2	1723	c.1668C>T	c.(1666-1668)TGC>TGT	p.C556C		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	556	Cytoplasmic (By similarity).			KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CGTAGGCCTGGCAGGTGGCGC	0.687												
CHGB	1114	broad.mit.edu	37	20	5904215	5904215	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:5904215T>C	uc002wmg.2	+	4	1731	c.1425T>C	c.(1423-1425)GGT>GGC	p.G475G	CHGB_uc010zqz.1_Silent_p.G158G	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	475						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TCAACTACGGTGAGGAAGGAG	0.512												
BTBD3	22903	broad.mit.edu	37	20	11898985	11898985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:11898985C>T	uc002wnz.2	+	1	421	c.62C>T	c.(61-63)ACG>ATG	p.T21M	BTBD3_uc002wny.2_Translation_Start_Site|BTBD3_uc002woa.2_Translation_Start_Site|BTBD3_uc010zrf.1_Translation_Start_Site|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	21										ovary(2)|central_nervous_system(1)	3						CTTCCAGAGACGGTAAAGAAC	0.333												
DTD1	92675	broad.mit.edu	37	20	18608856	18608856	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:18608856T>C	uc002wrf.3	+	4	617	c.456T>C	c.(454-456)ACT>ACC	p.T152T		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	152					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2						CTCCCGGCACTGCTACCTCTG	0.562												
GZF1	64412	broad.mit.edu	37	20	23345800	23345800	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:23345800T>C	uc010gdb.2	+	3	954	c.780T>C	c.(778-780)TGT>TGC	p.C260C	GZF1_uc002wsy.2_Silent_p.C260C|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.C260C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	260					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACTACAGGTGTCCCCAGGACC	0.532												
ACSS1	84532	broad.mit.edu	37	20	24993453	24993453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:24993453C>T	uc002wub.2	-	11	2580	c.1702G>A	c.(1702-1704)GCC>ACC	p.A568T	ACSS1_uc002wuc.2_Missense_Mutation_p.A566T|ACSS1_uc010gdc.2_Missense_Mutation_p.A363T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A485T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	568					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCACGATGGCGTCCTCAATC	0.607												
TPX2	22974	broad.mit.edu	37	20	30345300	30345300	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:30345300T>G	uc002wwp.1	+	3	719	c.21T>G	c.(19-21)TCT>TCG	p.S7S	TPX2_uc010gdv.1_Silent_p.S7S	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	7					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTAAAAGCTCTTATTCCTATG	0.413												
MYLK2	85366	broad.mit.edu	37	20	30411335	30411335	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:30411335C>T	uc002wwq.2	+	5	930	c.828C>T	c.(826-828)ACC>ACT	p.T276T		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	276					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCTGAGGACCGGGAATGTCA	0.627											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SAMHD1	25939	broad.mit.edu	37	20	35521337	35521337	+	Nonstop_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:35521337A>C	uc002xgh.1	-	16	2009	c.1879T>G	c.(1879-1881)TGA>GGA	p.*627G	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	627					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				ACAGACATTCACATTGGGTCA	0.393												
TGM2	7052	broad.mit.edu	37	20	36760864	36760864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:36760864G>A	uc002xhr.2	-	11	1754	c.1654C>T	c.(1654-1656)CGT>TGT	p.R552C	TGM2_uc002xhq.2_Missense_Mutation_p.R153C|TGM2_uc010zvx.1_Missense_Mutation_p.R471C|TGM2_uc010zvy.1_Missense_Mutation_p.R492C|TGM2_uc002xhs.1_Missense_Mutation_p.R528C	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	552					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCAGTCACGGTATTTCTCA	0.547												
SERINC3	10955	broad.mit.edu	37	20	43142670	43142670	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:43142670G>A	uc002xme.2	-	2	185	c.51C>T	c.(49-51)CTC>CTT	p.L17L	SERINC3_uc002xmf.1_Silent_p.L17L|SERINC3_uc010ggs.1_Silent_p.L10L|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	17	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CACCGCTGCAGAGGCATGGAA	0.498												
SYS1	90196	broad.mit.edu	37	20	43995615	43995615	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:43995615T>G	uc002xnv.2	+	4	589	c.331T>G	c.(331-333)TCC>GCC	p.S111A	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	111	Helical; (Potential).				protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GTTCTACAGCTCCCGTTTCCC	0.582												
WFDC13	164237	broad.mit.edu	37	20	44333226	44333226	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:44333226C>T	uc002xpd.2	+	2	340	c.232C>T	c.(232-234)CGC>TGC	p.R78C	WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13 precursor	78						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				ATTTCAAAAGCGCAACAGGTA	0.483												
ZSWIM3	140831	broad.mit.edu	37	20	44486535	44486535	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:44486535A>C	uc002xqd.2	+	1	274	c.71A>C	c.(70-72)AAC>ACC	p.N24T	ACOT8_uc002xqa.1_5'Flank|ACOT8_uc010zxe.1_5'Flank|ACOT8_uc002xqc.1_5'Flank|ACOT8_uc010zxf.1_5'Flank|ZSWIM3_uc010zxg.1_5'UTR	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	24							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				AAAAGGGAGAACAGGTGCTCC	0.542												
EYA2	2139	broad.mit.edu	37	20	45702826	45702826	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:45702826G>T	uc002xsm.2	+	7	887	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	EYA2_uc010ghp.2_Missense_Mutation_p.Q171H|EYA2_uc002xsn.2_Missense_Mutation_p.Q176H|EYA2_uc002xso.2_Missense_Mutation_p.Q171H|EYA2_uc002xsp.2_Missense_Mutation_p.Q171H|EYA2_uc002xsq.2_Missense_Mutation_p.Q171H	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	171					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				GCTTCCCCCAGAGCCAGTACC	0.597												
ARFGEF2	10564	broad.mit.edu	37	20	47589799	47589799	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:47589799A>C	uc002xtx.3	+	12	1795	c.1643A>C	c.(1642-1644)GAG>GCG	p.E548A		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	548					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)			AGTGGACATGAGCTGGGAATG	0.294												
ZNFX1	57169	broad.mit.edu	37	20	47887312	47887312	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:47887312T>C	uc002xui.2	-	3	1284	c.1037A>G	c.(1036-1038)CAC>CGC	p.H346R		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	346							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCATCCAAGTGCACTTCATT	0.493												
PTGIS	5740	broad.mit.edu	37	20	48166644	48166644	+	Missense_Mutation	SNP	A	A	G	rs148875055		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:48166644A>G	uc002xut.2	-	2	211	c.157T>C	c.(157-159)TTC>CTC	p.F53L	PTGIS_uc010zyi.1_5'UTR	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	53					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTCGTGAGGAAGCTGGCAGCA	0.577												
PFDN4	5203	broad.mit.edu	37	20	52830939	52830939	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:52830939A>C	uc002xwx.2	+	2	212	c.74A>C	c.(73-75)AAA>ACA	p.K25T		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	25					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding				0	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AAGATAAACAAATTTGCACGG	0.279												
CASS4	57091	broad.mit.edu	37	20	55027197	55027197	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:55027197C>A	uc002xxp.2	+	6	1190	c.965C>A	c.(964-966)CCT>CAT	p.P322H	CASS4_uc002xxq.3_Missense_Mutation_p.P322H|CASS4_uc002xxr.2_Missense_Mutation_p.P322H|CASS4_uc010zze.1_Missense_Mutation_p.P268H|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGCACATTTCCTTTGGATGAA	0.443												
STX16	8675	broad.mit.edu	37	20	57243094	57243094	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:57243094C>A	uc002xzi.2	+	4	1039	c.304C>A	c.(304-306)CTT>ATT	p.L102I	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Missense_Mutation_p.L85I|STX16_uc002xzm.2_Missense_Mutation_p.L98I|STX16_uc002xzj.2_Missense_Mutation_p.L81I|STX16_uc002xzl.2_5'UTR	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	102	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTGGCCAGCCTTCATGACAA	0.473												
ZBTB46	140685	broad.mit.edu	37	20	62407094	62407094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62407094C>T	uc002ygv.1	-	3	1360	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCCCAGCACGTCGGCCTTC	0.672											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RGS19	10287	broad.mit.edu	37	20	62705590	62705590	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62705590G>A	uc002yhy.2	-	5	636	c.369C>T	c.(367-369)TGC>TGT	p.C123C	RGS19_uc002yhz.2_Silent_p.C101C|RGS19_uc002yia.2_Silent_p.C123C|RGS19_uc002yib.2_Silent_p.C123C	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	123	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCAGCTCCTCGCAGGCCAACC	0.607												
OPRL1	4987	broad.mit.edu	37	20	62730104	62730104	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62730104C>T	uc002yic.2	+	5	1467	c.1065C>T	c.(1063-1065)GAC>GAT	p.D355D	OPRL1_uc002yid.2_Silent_p.D355D|OPRL1_uc002yif.3_Silent_p.D350D	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	355	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647												
TPTE	7179	broad.mit.edu	37	21	10951287	10951287	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:10951287A>C	uc002yip.1	-	10	793	c.425T>G	c.(424-426)CTT>CGT	p.L142R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L124R|TPTE_uc002yir.1_Missense_Mutation_p.L104R|TPTE_uc010gkv.1_Missense_Mutation_p.L4R	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	142	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCGAAGAAGAACATCCAT	0.269												
ADAMTS5	11096	broad.mit.edu	37	21	28338331	28338331	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:28338331C>T	uc002ymg.2	-	1	1109	c.380G>A	c.(379-381)CGG>CAG	p.R127Q		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	127					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCAGTGGCTCCGGTGGCGCCA	0.667												
RNF160	26046	broad.mit.edu	37	21	30316746	30316746	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:30316746C>T	uc002ymr.2	-	22	4092	c.4079G>A	c.(4078-4080)GGC>GAC	p.G1360D		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1314							ligase activity|zinc ion binding				0						ACTGTGGATGCCTTGGGAAAA	0.373												
KRTAP19-5	337972	broad.mit.edu	37	21	31874258	31874258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:31874258C>T	uc011ada.1	-	1	151	c.151G>A	c.(151-153)GGA>AGA	p.G51R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	51						intermediate filament	protein binding				0						CCATAGCCTCCGAAGCCAGAG	0.547												
DOPEY2	9980	broad.mit.edu	37	21	37605234	37605234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:37605234C>T	uc002yvg.2	+	15	2562	c.2483C>T	c.(2482-2484)GCG>GTG	p.A828V	DOPEY2_uc011aeb.1_Missense_Mutation_p.A828V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	828					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGTCCCTGGCGCTTGTCATT	0.502												
MORC3	23515	broad.mit.edu	37	21	37710204	37710204	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:37710204G>A	uc002yvi.2	+	4	496	c.420G>A	c.(418-420)GCG>GCA	p.A140A		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	140					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TCATAAAAGCGGAGCATGTTG	0.403												
CBS	875	broad.mit.edu	37	21	44474020	44474020	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:44474020G>A	uc002zcu.2	-	17	1871	c.1626C>T	c.(1624-1626)TTC>TTT	p.F542F	CBS_uc002zcs.1_Silent_p.F437F|CBS_uc002zct.2_Silent_p.F542F|CBS_uc002zcw.3_Silent_p.F542F|CBS_uc002zcv.2_Silent_p.F542F	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	542					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGGCGGCCACGAAGTTCAGCA	0.652												
ADARB1	104	broad.mit.edu	37	21	46595860	46595860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:46595860G>A	uc002zgy.2	+	4	679	c.244G>A	c.(244-246)GCC>ACC	p.A82T	ADARB1_uc002zgr.2_Missense_Mutation_p.A82T|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.A82T|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.A82T|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.A131T	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	82	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CCCCAAGAACGCCCTGATGCA	0.597												
CDC45	8318	broad.mit.edu	37	22	19495010	19495010	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:19495010A>G	uc002zpr.2	+	11	1002	c.926A>G	c.(925-927)AAG>AGG	p.K309R	CDC45_uc011agz.1_Missense_Mutation_p.K304R|CDC45_uc011aha.1_Missense_Mutation_p.K341R|CDC45_uc002zps.2_Missense_Mutation_p.K309R|CDC45_uc002zpt.2_Missense_Mutation_p.K263R	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	309					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						CATGGACAGAAGCGGCTCCAG	0.612												
COMT	1312	broad.mit.edu	37	22	19951793	19951793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:19951793C>T	uc002zqu.2	+	5	835	c.586C>T	c.(586-588)CGG>TGG	p.R196W	COMT_uc002zqt.2_Missense_Mutation_p.R196W|COMT_uc002zqv.2_Missense_Mutation_p.R196W|COMT_uc002zqw.2_Missense_Mutation_p.R196W|COMT_uc011ahd.1_Missense_Mutation_p.R196W|COMT_uc002zqx.2_Missense_Mutation_p.R196W	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	196					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTGGAAGGACCGGTACCTGCC	0.597												
TRMT2A	27037	broad.mit.edu	37	22	20103762	20103762	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:20103762A>G	uc002zrk.1	-	3	613	c.398T>C	c.(397-399)CTC>CCC	p.L133P	TRMT2A_uc002zrl.1_Missense_Mutation_p.L133P|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.L133P|TRMT2A_uc011ahk.1_Missense_Mutation_p.L133P|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	133	RRM.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						GCCTTTCCAGAGGGCACCATG	0.637												
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:21800714C>T	uc002zur.3	+	3	1760	c.1530C>T	c.(1528-1530)TGC>TGT	p.C510C	HIC2_uc002zus.3_Silent_p.C510C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642												
HSCB	150274	broad.mit.edu	37	22	29141880	29141880	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:29141880A>G	uc003aea.2	+	4	493	c.452A>G	c.(451-453)GAA>GGA	p.E151G		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	151					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						GAGATTCCTGAAAGGACAGAT	0.378												
NEFH	4744	broad.mit.edu	37	22	29885456	29885456	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:29885456G>T	uc003afo.2	+	4	1898	c.1827G>T	c.(1825-1827)AAG>AAT	p.K609N	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	609	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament					0						ccccagtgaaggaagaagcaa	0.468												
CABP7	164633	broad.mit.edu	37	22	30125551	30125551	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:30125551T>C	uc003agl.2	+	5	711	c.641T>C	c.(640-642)ATG>ACG	p.M214T		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	calcium binding protein 7	214	Extracellular (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CGCAGTGGCATGAAGTAGACG	0.657												
TBC1D10A	83874	broad.mit.edu	37	22	30695501	30695501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:30695501G>A	uc011akt.1	-	3	373	c.349C>T	c.(349-351)CGG>TGG	p.R117W	GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_5'UTR|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R29W|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R124W|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R117W	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	117	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						GCACGGCCCCGCAGAGAAGGC	0.582												
FBXO7	25793	broad.mit.edu	37	22	32880008	32880008	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:32880008A>C	uc003amq.2	+	3	825	c.542A>C	c.(541-543)CAT>CCT	p.H181P	FBXO7_uc003amp.1_Missense_Mutation_p.H67P|FBXO7_uc003amr.2_Missense_Mutation_p.H67P|FBXO7_uc003ams.2_Missense_Mutation_p.H25P|FBXO7_uc003amt.2_Missense_Mutation_p.H102P|FBXO7_uc003amu.2_Missense_Mutation_p.H67P	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	181					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CAAGTGCCACATTCATTAGAG	0.453												
MCM5	4174	broad.mit.edu	37	22	35812348	35812348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:35812348G>A	uc003anu.3	+	11	1458	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	MCM5_uc010gwr.2_Missense_Mutation_p.R264H|MCM5_uc003anv.3_Missense_Mutation_p.R412H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.R239H	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	455	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GAAGATGACCGTGTGGCAATC	0.557												
GRAP2	9402	broad.mit.edu	37	22	40366977	40366977	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:40366977C>T	uc003ayh.1	+	8	1145	c.882C>T	c.(880-882)AGC>AGT	p.S294S	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Silent_p.S268S|GRAP2_uc011aon.1_Silent_p.S228S|GRAP2_uc010gya.1_Silent_p.S294S|GRAP2_uc011aoo.1_Silent_p.S222S|GRAP2_uc011aop.1_Silent_p.S254S|GRAP2_uc011aoq.1_Silent_p.S181S|GRAP2_uc003ayj.1_Silent_p.S294S	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	294	SH3 2.				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						GGTTCCACAGCGGGGAGGTGG	0.647												
TOB2	10766	broad.mit.edu	37	22	41832689	41832689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:41832689G>A	uc003azz.1	-	2	1368	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	221					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						GTGGGTGAGCGGGCCATGCGA	0.592												
PMM1	5372	broad.mit.edu	37	22	41973879	41973879	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:41973879T>C	uc003bal.2	-	7	661	c.599A>G	c.(598-600)TAC>TGC	p.Y200C		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	200					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						ATCCAGGCAGTAGCGCTTGTC	0.607												
PNPLA5	150379	broad.mit.edu	37	22	44277498	44277498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:44277498A>G	uc003beg.2	-	8	1236	c.1139T>C	c.(1138-1140)CTG>CCG	p.L380P	PNPLA5_uc011aqc.1_Missense_Mutation_p.L240P|PNPLA5_uc003beh.2_Missense_Mutation_p.L266P	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	380					lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CATGTTCCTCAGCAGGCCCTG	0.657												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45182488	45182488	+	Splice_Site	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:45182488T>C	uc003bfd.2	+	8	1113	c.841_splice	c.e8+2	p.G281_splice	PRR5-ARHGAP8_uc003bfc.2_Splice_Site_p.G158_splice|PRR5-ARHGAP8_uc011aqi.1_Splice_Site_p.G149_splice|PRR5-ARHGAP8_uc011aqj.1_Splice_Site_p.G63_splice|ARHGAP8_uc003bfi.2_Splice_Site_p.G27_splice|ARHGAP8_uc010gzv.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfj.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfk.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfl.2_Splice_Site|PRR5-ARHGAP8_uc003bfg.1_Splice_Site_p.G63_splice	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						AGGTGGCAGGTAGGGCCCCAG	0.647												
CHL1	10752	broad.mit.edu	37	3	419520	419520	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:419520A>G	uc003bou.2	+	15	1994	c.1723A>G	c.(1723-1725)AAT>GAT	p.N575D	CHL1_uc003bot.2_Missense_Mutation_p.N591D|CHL1_uc003bow.1_Missense_Mutation_p.N575D|CHL1_uc011asi.1_Missense_Mutation_p.N591D|uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	575	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGATGGAGCTAATTTGACCAT	0.333												
CNTN4	152330	broad.mit.edu	37	3	3095601	3095601	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:3095601A>G	uc003bpc.2	+	23	3143	c.2922A>G	c.(2920-2922)CCA>CCG	p.P974P	CNTN4_uc003bpe.2_Silent_p.P646P|CNTN4_uc003bpf.2_Silent_p.P645P|CNTN4_uc003bpg.2_Silent_p.P230P	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	974	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAATTAAGCCATTCAGCGACG	0.398												
IL17RE	132014	broad.mit.edu	37	3	9944618	9944618	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:9944618T>C	uc003btu.2	+	2	119	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.M1T|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.M1T|IL17RE_uc003btx.2_5'UTR|IL17RE_uc010hcq.2_Missense_Mutation_p.M1T|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	1						cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAGAAGCCCATGGGGAGCTCC	0.617												
ATP2B2	491	broad.mit.edu	37	3	10370646	10370646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:10370646G>A	uc003bvt.2	-	23	4023	c.3584C>T	c.(3583-3585)GCG>GTG	p.A1195V	ATP2B2_uc003bvv.2_Missense_Mutation_p.A1150V|ATP2B2_uc003bvw.2_Missense_Mutation_p.A1150V|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.A900V|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1195	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGCTTGAGCGCGGCATCTTC	0.547												
MKRN2	23609	broad.mit.edu	37	3	12611711	12611711	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:12611711C>T	uc003bxd.2	+	3	353	c.297C>T	c.(295-297)CCC>CCT	p.P99P	MKRN2_uc003bxe.2_Silent_p.P97P|MKRN2_uc011aus.1_Silent_p.P56P	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	99						intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						CACATGAACCCGGAAAGCGTG	0.498												
GPD1L	23171	broad.mit.edu	37	3	32181769	32181769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:32181769G>A	uc003cew.2	+	4	476	c.416G>A	c.(415-417)CGT>CAT	p.R139H		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	139					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						GACATCATCCGTGAGAAGATG	0.517												
ACVR2B	93	broad.mit.edu	37	3	38520654	38520654	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:38520654C>T	uc003cif.2	+	6	726	c.702C>T	c.(700-702)TTC>TTT	p.F234F	ACVR2B_uc003cig.2_Silent_p.F25F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	234	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GGGAGATCTTCAGCACACCTG	0.602												
CCR2	729230	broad.mit.edu	37	3	46399019	46399019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:46399019A>G	uc003cpn.3	+	2	486	c.1A>G	c.(1-3)ATG>GTG	p.M1V	CCR2_uc003cpm.3_Missense_Mutation_p.M1V	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	1	Extracellular (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CATCCACAACATGCTGTCCAC	0.428												
P4HTM	54681	broad.mit.edu	37	3	49040002	49040002	+	Missense_Mutation	SNP	G	G	A	rs34281016		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:49040002G>A	uc003cvg.2	+	4	1046	c.697G>A	c.(697-699)GCG>ACG	p.A233T	P4HTM_uc003cvh.2_Missense_Mutation_p.A233T|P4HTM_uc010hkm.1_Missense_Mutation_p.A119T	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	233	Lumenal (Potential).|EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GATGTACGCCGCGATCAAGGC	0.562												
AMIGO3	386724	broad.mit.edu	37	3	49755859	49755859	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:49755859G>A	uc003cxj.2	-	1	1380	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	347	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGAGTCCCGCATGCTGCTC	0.672												
RBM6	10180	broad.mit.edu	37	3	50005493	50005493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50005493G>A	uc003cyc.2	+	3	768	c.635G>A	c.(634-636)CGT>CAT	p.R212H	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	212					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAACAGTCCCGTTCTGATTTT	0.423												
RBM6	10180	broad.mit.edu	37	3	50005514	50005514	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50005514A>G	uc003cyc.2	+	3	789	c.656A>G	c.(655-657)GAT>GGT	p.D219G	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	219					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAATAGAGATGTATCTGAT	0.448												
TLR9	54106	broad.mit.edu	37	3	52255367	52255367	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52255367G>A	uc003dda.1	-	2	3599	c.2965C>T	c.(2965-2967)CGC>TGC	p.R989C	TLR9_uc003ddb.2_Missense_Mutation_p.R1086C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	989	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACACTCTGGCGGCAGAGGCGC	0.687												
GLYCTK	132158	broad.mit.edu	37	3	52325846	52325846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52325846C>T	uc003ddo.2	+	4	709	c.613C>T	c.(613-615)CGT>TGT	p.R205C	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R205C|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCTGGCAGCCCGTGGAGCCAC	0.622											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NISCH	11188	broad.mit.edu	37	3	52525384	52525384	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52525384G>T	uc011beg.1	+	21	3831	c.3759G>T	c.(3757-3759)CAG>CAT	p.Q1253H	NISCH_uc003ded.3_Missense_Mutation_p.Q1253H|NISCH_uc003dee.3_Missense_Mutation_p.Q742H|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.Q2H	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1253					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCCGATGCAGGTGGTCACGT	0.672												
WNT5A	7474	broad.mit.edu	37	3	55508438	55508438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:55508438C>T	uc003dhn.2	-	4	929	c.611G>A	c.(610-612)CGC>CAC	p.R204H	WNT5A_uc003dhm.2_Missense_Mutation_p.R189H|WNT5A_uc010hmw.2_Missense_Mutation_p.R189H|WNT5A_uc010hmx.2_Missense_Mutation_p.R115H	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	204					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGCGTGGATGCGCTCCCGCTC	0.682												
ACOX2	8309	broad.mit.edu	37	3	58516335	58516335	+	Missense_Mutation	SNP	C	C	T	rs143508132	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:58516335C>T	uc003dkl.2	-	8	1025	c.850G>A	c.(850-852)GGT>AGT	p.G284S		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	284					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGTGCTGTACCGAGTTTGACG	0.582												
PTPRG	5793	broad.mit.edu	37	3	62204651	62204651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:62204651A>G	uc003dlb.2	+	13	3001	c.2282A>G	c.(2281-2283)TAC>TGC	p.Y761C	PTPRG_uc003dlc.2_Missense_Mutation_p.Y761C|PTPRG_uc011bfi.1_Missense_Mutation_p.Y36C	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	761	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTGCTCGTTTACTGGAGGTAA	0.577												
SYNPR	132204	broad.mit.edu	37	3	63542315	63542315	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:63542315C>T	uc003dlq.2	+	3	615	c.246C>T	c.(244-246)TTC>TTT	p.F82F	SYNPR_uc003dlp.2_Silent_p.F102F|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Silent_p.F91F|SYNPR_uc011bfm.1_Intron	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	82	MARVEL.|Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CAGAGTTCTTCGTCACTGTTG	0.522												
ATXN7	6314	broad.mit.edu	37	3	63981263	63981263	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:63981263T>C	uc003dlw.3	+	12	2318	c.1765T>C	c.(1765-1767)TGT>CGT	p.C589R	ATXN7_uc003dlv.2_Missense_Mutation_p.C589R|ATXN7_uc010hnv.2_Missense_Mutation_p.C589R|ATXN7_uc011bfn.1_Missense_Mutation_p.C444R	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	589					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GACATCACAATGTGGAGTCAG	0.517												
FOXP1	27086	broad.mit.edu	37	3	71027093	71027093	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:71027093C>T	uc003dol.2	-	11	1557	c.1234G>A	c.(1234-1236)GCC>ACC	p.A412T	FOXP1_uc003dom.2_Missense_Mutation_p.A336T|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A412T|FOXP1_uc003dop.2_Missense_Mutation_p.A412T|FOXP1_uc003doq.1_Missense_Mutation_p.A411T|FOXP1_uc003doi.2_Missense_Mutation_p.A312T|FOXP1_uc003doj.2_Missense_Mutation_p.A312T|FOXP1_uc003dok.2_Missense_Mutation_p.A225T|FOXP1_uc003dor.1_Missense_Mutation_p.A190T	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	412					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCAGGGGGGCGGTTGGGGTC	0.557			T	PAX5	ALL							
FOXP1	27086	broad.mit.edu	37	3	71247410	71247410	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:71247410C>T	uc003dol.2	-	2	446	c.123G>A	c.(121-123)ACG>ACA	p.T41T	FOXP1_uc003dom.2_Silent_p.T41T|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.T41T|FOXP1_uc003dop.2_Silent_p.T41T|FOXP1_uc003doq.1_Silent_p.T41T|FOXP1_uc003dos.2_Silent_p.T41T	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	41					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCACGGCCGGCGTCTCTCCGT	0.637			T	PAX5	ALL							
NSUN3	63899	broad.mit.edu	37	3	93803180	93803180	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:93803180G>C	uc003drl.1	+	3	468	c.352G>C	c.(352-354)GCT>CCT	p.A118P		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	118							methyltransferase activity			skin(1)	1						TCTCCTAAATGCTGCTTCTCT	0.458												
SENP7	57337	broad.mit.edu	37	3	101136515	101136515	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:101136515A>G	uc003dut.2	-	5	515	c.404T>C	c.(403-405)TTG>TCG	p.L135S	SENP7_uc003duu.2_Missense_Mutation_p.L135S|SENP7_uc003duv.2_Missense_Mutation_p.L102S|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	135					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TGTCGAAGGCAATGAGTCTGA	0.393												
DRD3	1814	broad.mit.edu	37	3	113847734	113847734	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:113847734G>A	uc003ebd.2	-	8	1455	c.1032C>T	c.(1030-1032)CCC>CCT	p.P344P	DRD3_uc010hqn.1_Silent_p.P344P|DRD3_uc003ebb.1_Silent_p.P311P|DRD3_uc003ebc.1_Silent_p.P344P	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	344	Agonist binding.|Helical; Name=6.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TCAAGAAGAAGGGCAGCCAGC	0.498												
PLXNA1	5361	broad.mit.edu	37	3	126710241	126710241	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:126710241T>C	uc003ejg.2	+	2	1144	c.1140T>C	c.(1138-1140)GAT>GAC	p.D380D		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	403	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TGCAGATCGATGACGACTTCT	0.672												
NMNAT3	349565	broad.mit.edu	37	3	139280118	139280118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:139280118C>T	uc003etj.2	-	4	533	c.493G>A	c.(493-495)GTG>ATG	p.V165M	NMNAT3_uc003etk.2_Missense_Mutation_p.V128M|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.V76M	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	165					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						ACTCGGCCCACGCACACCAAG	0.552												
HPS3	84343	broad.mit.edu	37	3	148872996	148872996	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:148872996A>C	uc003ewu.1	+	8	1643	c.1503A>C	c.(1501-1503)AAA>AAC	p.K501N	HPS3_uc011bnq.1_Missense_Mutation_p.K336N	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	501						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTGTACAAAGAGATGGTAC	0.353									Hermansky-Pudlak_syndrome			
FAM194A	131831	broad.mit.edu	37	3	150377912	150377912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:150377912G>A	uc003eyg.2	-	14	1816	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	FAM194A_uc003eyh.2_Nonsense_Mutation_p.R441*	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	587										skin(2)|ovary(1)	3						CTTACGTATCGGAGGATTGGA	0.468												
SLC7A14	57709	broad.mit.edu	37	3	170244644	170244644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:170244644G>A	uc003fgz.2	-	2	398	c.82C>T	c.(82-84)CGC>TGC	p.R28C	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	28						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGTTTGGTGCGTAGGATCCTG	0.587												
CCDC39	339829	broad.mit.edu	37	3	180365986	180365986	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:180365986T>G	uc010hxe.2	-	10	1444	c.1329A>C	c.(1327-1329)GAA>GAC	p.E443D	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	443	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTCAAGGTTTCAAAATCCA	0.348												
MCCC1	56922	broad.mit.edu	37	3	182790190	182790190	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:182790190G>T	uc003fle.2	-	5	592	c.455C>A	c.(454-456)CCT>CAT	p.P152H	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.P43H|MCCC1_uc011bqp.1_Missense_Mutation_p.P105H|MCCC1_uc011bqq.1_Missense_Mutation_p.P43H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	152	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGATGGAGGAGGGCCTATAAA	0.333												
ALG3	10195	broad.mit.edu	37	3	183963113	183963113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:183963113C>T	uc003fne.2	-	4	509	c.478G>A	c.(478-480)GCC>ACC	p.A160T	ALG3_uc011brc.1_Missense_Mutation_p.A125T|ALG3_uc011brd.1_Missense_Mutation_p.A104T|ALG3_uc011bre.1_Missense_Mutation_p.A112T|ALG3_uc003fnf.1_Missense_Mutation_p.A120T|ALG3_uc011brf.1_Missense_Mutation_p.A52T	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	160	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGTAAGAGGCGCAGCACATG	0.557												
EIF4G1	1981	broad.mit.edu	37	3	184045694	184045694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:184045694C>T	uc003fnp.2	+	26	4055	c.3857C>T	c.(3856-3858)ACG>ATG	p.T1286M	EIF4G1_uc003fnt.2_Missense_Mutation_p.T997M|EIF4G1_uc003fnq.2_Missense_Mutation_p.T1199M|EIF4G1_uc003fnr.2_Missense_Mutation_p.T1122M|EIF4G1_uc010hxx.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fns.2_Missense_Mutation_p.T1246M|EIF4G1_uc010hxy.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fnv.3_Missense_Mutation_p.T1287M|EIF4G1_uc003fnu.3_Missense_Mutation_p.T1286M|EIF4G1_uc003fnw.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fnx.2_Missense_Mutation_p.T1091M|EIF4G1_uc003fny.3_Missense_Mutation_p.T1090M|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1286	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCGAGTCTACGCTGGAGCGC	0.597												
ATP13A3	79572	broad.mit.edu	37	3	194147839	194147839	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:194147839C>T	uc003fty.3	-	28	3492	c.3090G>A	c.(3088-3090)CAG>CAA	p.Q1030Q	ATP13A3_uc003ftx.3_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1030					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACCAAGGTTGCTGTTTGACCC	0.358												
MFI2	4241	broad.mit.edu	37	3	196736658	196736658	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:196736658G>A	uc003fxk.3	-	11	1469	c.1356C>T	c.(1354-1356)TAC>TAT	p.Y452Y		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	452	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGGCCACCACGTAGTACGAGT	0.662												
TMEM129	92305	broad.mit.edu	37	4	1720065	1720065	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:1720065A>G	uc003gdn.2	-	2	1014	c.494T>C	c.(493-495)ATT>ACT	p.I165T	TMEM129_uc010iby.2_RNA|TMEM129_uc003gdm.2_Missense_Mutation_p.I165T	NM_001127266	NP_001120738	A0AVI4	TM129_HUMAN	transmembrane protein 129 isoform a	165	Extracellular (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GTCTGTCACAATCACACGGGC	0.607												
LETM1	3954	broad.mit.edu	37	4	1817414	1817414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:1817414C>T	uc003gdv.2	-	13	2344	c.2047G>A	c.(2047-2049)GTC>ATC	p.V683I		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	683	Mitochondrial matrix (Potential).|EF-hand.|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCGATGTTGACCTTGCCATCC	0.602												
FAM193A	8603	broad.mit.edu	37	4	2701621	2701621	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:2701621T>C	uc010icl.2	+	17	3200	c.2849T>C	c.(2848-2850)ATG>ACG	p.M950T	FAM193A_uc010ick.2_Missense_Mutation_p.M1150T|FAM193A_uc003gfd.2_Missense_Mutation_p.M950T|FAM193A_uc011bvm.1_Missense_Mutation_p.M972T|FAM193A_uc011bvn.1_Missense_Mutation_p.M950T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.M804T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	950										ovary(3)	3						AAGTTGGACATGCTCACTAGA	0.453												
HTT	3064	broad.mit.edu	37	4	3158802	3158802	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:3158802C>A	uc011bvq.1	+	29	3780	c.3635C>A	c.(3634-3636)TCT>TAT	p.S1212Y		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1210					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTAAAGCTTCTAGACAATCT	0.333												
TADA2B	93624	broad.mit.edu	37	4	7056720	7056720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:7056720T>C	uc003gjw.3	+	2	1353	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	TADA2B_uc010idi.2_Missense_Mutation_p.L326P	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GACAAAGTCCTAAAGAAAAGG	0.493												
LCORL	254251	broad.mit.edu	37	4	17887775	17887775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:17887775A>G	uc003gpq.2	-	6	703	c.692T>C	c.(691-693)GTG>GCG	p.V231A	LCORL_uc011bxk.1_Intron	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						GAGATCTAACACTCCATCCCC	0.323												
PPARGC1A	10891	broad.mit.edu	37	4	23814436	23814436	+	Silent	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:23814436G>C	uc003gqs.2	-	10	2073	c.1953C>G	c.(1951-1953)CGC>CGG	p.R651R	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	651					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CATACTCTCTGCGATATTCTT	0.453												
ARAP2	116984	broad.mit.edu	37	4	36115863	36115863	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:36115863G>A	uc003gsq.1	-	26	4423	c.4085C>T	c.(4084-4086)GCG>GTG	p.A1362V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1362	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTTTTTATCGCTAATATATC	0.313												
CORIN	10699	broad.mit.edu	37	4	47746539	47746539	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:47746539G>T	uc003gxm.2	-	5	772	c.679C>A	c.(679-681)CTG>ATG	p.L227M	CORIN_uc011bzf.1_Missense_Mutation_p.L88M|CORIN_uc011bzg.1_Missense_Mutation_p.L160M|CORIN_uc011bzh.1_Missense_Mutation_p.L227M|CORIN_uc011bzi.1_Missense_Mutation_p.L227M|CORIN_uc003gxn.3_Missense_Mutation_p.L227M	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	227	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ACCATCCCCAGGACTGATTCA	0.443												
KIAA1211	57482	broad.mit.edu	37	4	57181919	57181919	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:57181919C>T	uc003hbk.2	+	8	2642	c.2251C>T	c.(2251-2253)CTG>TTG	p.L751L	KIAA1211_uc010iha.2_Silent_p.L744L|KIAA1211_uc011bzz.1_Silent_p.L661L|KIAA1211_uc003hbm.1_Silent_p.L637L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	751										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAGACCCATGCTGGGACCCAG	0.582												
TMPRSS11F	389208	broad.mit.edu	37	4	68925166	68925166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:68925166G>A	uc003hdt.1	-	9	1085	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	346	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTGGCTTGCCGAAGTGTATTT	0.363												
AFM	173	broad.mit.edu	37	4	74364932	74364932	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:74364932T>C	uc003hhb.2	+	11	1422	c.1391T>C	c.(1390-1392)CTA>CCA	p.L464P		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	464	Albumin 3.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTACGCTAAGTGAAGAG	0.403												
EREG	2069	broad.mit.edu	37	4	75246852	75246852	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:75246852C>T	uc003hie.1	+	3	442	c.276C>T	c.(274-276)TGC>TGT	p.C92C	EREG_uc003hid.2_Silent_p.C86C	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	92	Extracellular (Potential).|EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|skin(1)	2			Lung(101;0.196)			AAAACTACTGCAGGTAATATG	0.274												
NUP54	53371	broad.mit.edu	37	4	77065399	77065399	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:77065399A>G	uc003hjs.2	-	3	326	c.198T>C	c.(196-198)GGT>GGC	p.G66G	NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Intron|NUP54_uc003hjt.2_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	66	Gly-rich.|Thr-rich.|9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						TTGTGCCAAAACCAGTACCAA	0.388												
HELQ	113510	broad.mit.edu	37	4	84374977	84374977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:84374977G>A	uc003hom.2	-	2	598	c.419C>T	c.(418-420)GCT>GTT	p.A140V	HELQ_uc010ikb.2_Missense_Mutation_p.A140V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.A34V|HELQ_uc003hoo.1_Missense_Mutation_p.A103V|HELQ_uc003hop.1_Missense_Mutation_p.A34V|HELQ_uc003hoq.1_Missense_Mutation_p.A140V|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	140							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AAAGTCTGTAGCATGTTTCTT	0.368								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
NPNT	255743	broad.mit.edu	37	4	106819158	106819158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:106819158C>T	uc003hya.2	+	2	377	c.172C>T	c.(172-174)CCT>TCT	p.P58S	NPNT_uc011cfc.1_Missense_Mutation_p.P58S|NPNT_uc011cfd.1_Missense_Mutation_p.P58S|NPNT_uc011cfe.1_Missense_Mutation_p.P58S|NPNT_uc010ilt.1_Missense_Mutation_p.P58S|NPNT_uc011cff.1_Missense_Mutation_p.P58S|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	58	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ACAGTGTCAGCGTGAGTATCA	0.552												
PAPSS1	9061	broad.mit.edu	37	4	108603286	108603286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:108603286A>G	uc003hyk.2	-	5	638	c.554T>C	c.(553-555)TTC>TCC	p.F185S	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	185	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)		GATCCCAGTGAAACCTGCAAA	0.383												
BBS7	55212	broad.mit.edu	37	4	122756413	122756413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:122756413C>T	uc003ied.2	-	14	1571	c.1397G>A	c.(1396-1398)GGC>GAC	p.G466D	BBS7_uc003iee.1_Missense_Mutation_p.G466D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	466					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						TTGTAGTGTGCCATACTGGCC	0.373									Bardet-Biedl_syndrome			
FAT4	79633	broad.mit.edu	37	4	126239199	126239199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126239199G>A	uc003ifj.3	+	1	1633	c.1633G>A	c.(1633-1635)GCT>ACT	p.A545T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	545	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCGTGAACTTGCTTCCCAGAT	0.522											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126370559	126370559	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126370559T>G	uc003ifj.3	+	9	8388	c.8388T>G	c.(8386-8388)ACT>ACG	p.T2796T	FAT4_uc011cgp.1_Silent_p.T1094T|FAT4_uc003ifi.1_Silent_p.T274T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2796	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGTCACAACTTCTGATGAAG	0.373												
FAT4	79633	broad.mit.edu	37	4	126372301	126372301	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126372301A>T	uc003ifj.3	+	9	10130	c.10130A>T	c.(10129-10131)AAC>ATC	p.N3377I	FAT4_uc011cgp.1_Missense_Mutation_p.N1675I|FAT4_uc003ifi.1_Missense_Mutation_p.N855I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3377	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGGCCAAGAACTTTGGCAGC	0.398												
FAT4	79633	broad.mit.edu	37	4	126411350	126411350	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126411350C>A	uc003ifj.3	+	17	13373	c.13373C>A	c.(13372-13374)ACG>AAG	p.T4458K	FAT4_uc011cgp.1_Missense_Mutation_p.T2699K|FAT4_uc003ifi.1_Missense_Mutation_p.T1935K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4458	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACTCGCACACGGGAAGGACC	0.632												
INPP4B	8821	broad.mit.edu	37	4	143003205	143003205	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:143003205C>A	uc003iix.3	-	26	3216	c.2621G>T	c.(2620-2622)CGA>CTA	p.R874L	INPP4B_uc003iiw.3_Missense_Mutation_p.R874L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.R689L|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	874					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					ATCCAGCGCTCGGATAAAGAA	0.348												
LRBA	987	broad.mit.edu	37	4	151773180	151773180	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:151773180A>G	uc010ipj.2	-	23	4156	c.3682T>C	c.(3682-3684)TGT>CGT	p.C1228R	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.C1228R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1228						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CTACCATGACAATCATTAATT	0.428												
KIAA0922	23240	broad.mit.edu	37	4	154519772	154519772	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:154519772C>T	uc003inm.3	+	21	2203	c.2151C>T	c.(2149-2151)GGC>GGT	p.G717G	KIAA0922_uc010ipp.2_Silent_p.G718G|KIAA0922_uc010ipq.2_Silent_p.G486G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	717	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACATGATTGGCGTGGAAGGAT	0.418												
GUCY1A3	2982	broad.mit.edu	37	4	156631766	156631766	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:156631766A>G	uc003iov.2	+	7	985	c.449A>G	c.(448-450)AAC>AGC	p.N150S	GUCY1A3_uc003iou.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqc.2_Missense_Mutation_p.N150S|GUCY1A3_uc003iow.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N149S|GUCY1A3_uc003iox.2_Missense_Mutation_p.N150S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N150S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	150				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGATGAAAACATCCTTGGG	0.418												
CTSO	1519	broad.mit.edu	37	4	156849508	156849508	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:156849508T>G	uc003ipg.2	-	7	960	c.911A>C	c.(910-912)AAA>ACA	p.K304T		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	304					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		ACTTCCCATTTTGACATGGGC	0.343												
MARCH1	55016	broad.mit.edu	37	4	164506986	164506986	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:164506986T>C	uc003iqs.1	-	6	1315	c.338A>G	c.(337-339)CAG>CGG	p.Q113R	MARCH1_uc003iqr.1_Missense_Mutation_p.Q96R	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	113	RING-CH-type.				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTATCCACTGGTGGAGGCA	0.537												
TRIML2	205860	broad.mit.edu	37	4	189013038	189013038	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:189013038A>C	uc003izl.2	-	7	689	c.653T>G	c.(652-654)CTG>CGG	p.L218R	TRIML2_uc003izj.1_Missense_Mutation_p.L46R|TRIML2_uc003izk.1_Missense_Mutation_p.L26R|TRIML2_uc011cle.1_Missense_Mutation_p.L293R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	218	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CATAGTTCTCAGGTCCTCAGA	0.502												
CTNND2	1501	broad.mit.edu	37	5	11346569	11346569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:11346569G>A	uc003jfa.1	-	9	1688	c.1543C>T	c.(1543-1545)CCA>TCA	p.P515S	CTNND2_uc010itt.2_Missense_Mutation_p.P424S|CTNND2_uc011cmy.1_Missense_Mutation_p.P178S|CTNND2_uc011cmz.1_Missense_Mutation_p.P82S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P82S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	515					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTGCTGTATGGAGACTCAACA	0.602												
DNAH5	1767	broad.mit.edu	37	5	13766090	13766090	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:13766090A>C	uc003jfd.2	-	59	10138	c.10096T>G	c.(10096-10098)TTA>GTA	p.L3366V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3366	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCAACCTGTAAGTTCTGTAAA	0.408									Kartagener_syndrome			
CDH12	1010	broad.mit.edu	37	5	21802491	21802491	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:21802491T>G	uc010iuc.2	-	7	1499	c.1041A>C	c.(1039-1041)AAA>AAC	p.K347N	CDH12_uc011cno.1_Missense_Mutation_p.K307N|CDH12_uc003jgk.2_Missense_Mutation_p.K347N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	347	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AAGCCTCAACTTTGAAAGTGT	0.438										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24509890	24509890	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:24509890T>C	uc003jgr.1	-	7	1373	c.1041A>G	c.(1039-1041)AAA>AAG	p.K347K	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	347	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTGCTTCGACTTTCAGAGTAT	0.378										HNSCC(23;0.051)		
PDZD2	23037	broad.mit.edu	37	5	32074648	32074648	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:32074648A>G	uc003jhl.2	+	18	3824	c.3436A>G	c.(3436-3438)ACT>GCT	p.T1146A	PDZD2_uc003jhm.2_Missense_Mutation_p.T1146A|PDZD2_uc011cnx.1_Missense_Mutation_p.T972A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1146					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGTGAACCTGACTGGCAGAGC	0.597												
PDZD2	23037	broad.mit.edu	37	5	32098700	32098700	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:32098700T>C	uc003jhl.2	+	23	8566	c.8178T>C	c.(8176-8178)GGT>GGC	p.G2726G	PDZD2_uc003jhm.2_Silent_p.G2726G|PDZD2_uc003jhn.2_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2726					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ATGGGAAGGGTTTGCTGTCCA	0.557												
SPEF2	79925	broad.mit.edu	37	5	35641550	35641550	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:35641550T>G	uc003jjo.2	+	3	290	c.179T>G	c.(178-180)CTT>CGT	p.L60R	SPEF2_uc003jjn.1_Missense_Mutation_p.L60R|SPEF2_uc003jjq.3_Missense_Mutation_p.L60R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	60	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGCCAAACTTAATAATTTT	0.368												
SPEF2	79925	broad.mit.edu	37	5	35793420	35793420	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:35793420A>G	uc003jjo.2	+	32	4825	c.4714A>G	c.(4714-4716)ATC>GTC	p.I1572V	SPEF2_uc003jjp.1_Missense_Mutation_p.I1058V|SPEF2_uc003jjr.2_Missense_Mutation_p.I627V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1572					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTGGGCACCATCACTTTTGA	0.468												
NUP155	9631	broad.mit.edu	37	5	37299658	37299658	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:37299658A>T	uc003jku.1	-	31	3692	c.3574T>A	c.(3574-3576)TTT>ATT	p.F1192I	NUP155_uc003jkt.1_Missense_Mutation_p.F1133I|NUP155_uc010iuz.1_Missense_Mutation_p.F1128I	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1192					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGTCAGCAAATTCCCCATAA	0.358												
HCN1	348980	broad.mit.edu	37	5	45396642	45396642	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:45396642G>A	uc003jok.2	-	4	1207	c.1182C>T	c.(1180-1182)ACC>ACT	p.T394T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	394	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGATTAAAGCGGTGGCATGGC	0.498												
SKIV2L2	23517	broad.mit.edu	37	5	54674186	54674186	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:54674186A>G	uc003jpy.3	+	17	2121	c.1855A>G	c.(1855-1857)AAT>GAT	p.N619D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.N518D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	619					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTAATTCCCAATGAAGAAAG	0.274												
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:56181765C>T	uc003jqw.3	+	17	4490	c.3989C>T	c.(3988-3990)TCG>TTG	p.S1330L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343												
RGS7BP	401190	broad.mit.edu	37	5	63871704	63871704	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:63871704C>T	uc003jtj.2	+	3	436	c.436C>T	c.(436-438)CTG>TTG	p.L146L	RGS7BP_uc011cqu.1_Silent_p.L13L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	146					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418												
NLN	57486	broad.mit.edu	37	5	65105422	65105422	+	Silent	SNP	G	G	A	rs140799100	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:65105422G>A	uc003juf.2	+	10	1724	c.1608G>A	c.(1606-1608)GTG>GTA	p.V536V	NLN_uc003jug.2_Silent_p.V365V|NLN_uc010iww.2_Silent_p.V213V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	536					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAAATTGGGTGTGGGACGTCG	0.428												
NLN	57486	broad.mit.edu	37	5	65105492	65105492	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:65105492C>A	uc003juf.2	+	10	1794	c.1678C>A	c.(1678-1680)CTT>ATT	p.L560I	NLN_uc003jug.2_Missense_Mutation_p.L389I|NLN_uc010iww.2_Missense_Mutation_p.L237I	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	560					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGACGATCTGCTTGAAAAACT	0.393												
VCAN	1462	broad.mit.edu	37	5	82816658	82816658	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:82816658A>G	uc003kii.3	+	7	2889	c.2533A>G	c.(2533-2535)AGT>GGT	p.S845G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S845G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	845	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGACATCCCAAGTTTCACTGA	0.428												
GDF9	2661	broad.mit.edu	37	5	132197386	132197386	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:132197386T>C	uc003kxz.1	-	2	1512	c.1260A>G	c.(1258-1260)GTA>GTG	p.V420V	GDF9_uc011cxj.1_Silent_p.V332V	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	420					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGGCAGGTACACATGACG	0.483												
AFF4	27125	broad.mit.edu	37	5	132234075	132234075	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:132234075T>C	uc003kyd.2	-	10	1644	c.1236A>G	c.(1234-1236)GAA>GAG	p.E412E	AFF4_uc011cxk.1_Silent_p.E90E|AFF4_uc003kye.1_Silent_p.E412E	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	412	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGTGAAGGTTCAGAGTTAC	0.363												
KIF20A	10112	broad.mit.edu	37	5	137518981	137518981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:137518981C>T	uc003lcj.2	+	8	1452	c.956C>T	c.(955-957)CCG>CTG	p.P319L	KIF20A_uc011cyo.1_Missense_Mutation_p.P301L	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	319	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATTAGAACCGCCTAGCCAA	0.493												
PCDHA3	56145	broad.mit.edu	37	5	140181171	140181171	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140181171C>T	uc003lhf.2	+	1	389	c.389C>T	c.(388-390)GCG>GTG	p.A130V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A130V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAACGCGCCAGTTTTT	0.542												
PCDHB8	56128	broad.mit.edu	37	5	140559946	140559946	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140559946C>T	uc011dai.1	+	1	2517	c.2331C>T	c.(2329-2331)GGC>GGT	p.G777G	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATTCAGGGCCATTCTTTTG	0.408												
PCDHB11	56125	broad.mit.edu	37	5	140581381	140581381	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140581381G>A	uc003liy.2	+	1	2034	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P	PCDHB11_uc011daj.1_Silent_p.P313P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.687												
PCDHGA2	56113	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140719048C>T	uc003ljk.1	+	1	695	c.510C>T	c.(508-510)TAC>TAT	p.Y170Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.Y170Y	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	170	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537												
PPARGC1B	133522	broad.mit.edu	37	5	149212845	149212845	+	Silent	SNP	C	C	T	rs141686848		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:149212845C>T	uc003lrc.2	+	5	1251	c.1209C>T	c.(1207-1209)ACC>ACT	p.T403T	PPARGC1B_uc003lrb.1_Silent_p.T403T|PPARGC1B_uc003lrd.2_Silent_p.T364T|PPARGC1B_uc003lrf.2_Silent_p.T382T|PPARGC1B_uc003lre.1_Silent_p.T382T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	403					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGAGCACCGGGCCCAGAC	0.602												
TCOF1	6949	broad.mit.edu	37	5	149769545	149769545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:149769545C>T	uc003lry.2	+	19	3250	c.3142C>T	c.(3142-3144)CGG>TGG	p.R1048W	TCOF1_uc011dch.1_Missense_Mutation_p.R1048W|TCOF1_uc003lrz.2_Missense_Mutation_p.R1048W|TCOF1_uc003lrx.2_Missense_Mutation_p.R971W|TCOF1_uc003lsa.2_Missense_Mutation_p.R971W	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1048					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)			GGAGTCCAGTCGGATATCAGA	0.592												
DCTN4	51164	broad.mit.edu	37	5	150095168	150095168	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:150095168G>A	uc003lsv.2	-	12	1230	c.1128C>T	c.(1126-1128)TAC>TAT	p.Y376Y	DCTN4_uc003lsu.2_Silent_p.Y319Y|DCTN4_uc010jhi.2_Silent_p.Y383Y	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	376						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACTCATCGTACTCTGCTG	0.502												
FAT2	2196	broad.mit.edu	37	5	150917385	150917385	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:150917385C>A	uc003lue.3	-	11	9175	c.9162G>T	c.(9160-9162)GGG>GGT	p.G3054G	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3054	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCATGCGCCCCAGGGCCAT	0.463												
GALNT10	55568	broad.mit.edu	37	5	153760082	153760082	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:153760082G>A	uc003lvh.2	+	6	961	c.829G>A	c.(829-831)GAG>AAG	p.E277K	GALNT10_uc003lvg.1_Missense_Mutation_p.E277K|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.E118K	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	277	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTTTCGGTACGAGACACAGGC	0.542												
C5orf54	63920	broad.mit.edu	37	5	159821646	159821646	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:159821646A>G	uc003lye.1	-	2	1316	c.852T>C	c.(850-852)CCT>CCC	p.P284P	C5orf54_uc003lyf.1_Silent_p.P284P	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	284										pancreas(1)	1						tcagttttgtaggcaatgtct	0												
CCDC99	54908	broad.mit.edu	37	5	169031164	169031164	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:169031164T>C	uc003mae.3	+	12	2050	c.1771T>C	c.(1771-1773)TAT>CAT	p.Y591H	CCDC99_uc011deq.1_Missense_Mutation_p.Y408H|CCDC99_uc010jjk.2_Missense_Mutation_p.Y317H	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	591					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTATTCTATATGTGTCTTC	0.368												
CDHR2	54825	broad.mit.edu	37	5	176017621	176017621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:176017621G>T	uc003mem.1	+	28	3538	c.3472G>T	c.(3472-3474)GGA>TGA	p.G1158*	CDHR2_uc003men.1_Nonsense_Mutation_p.G1158*	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1158	Helical; (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTCATCATAGGATTGGGAGT	0.562												
PROP1	5626	broad.mit.edu	37	5	177419842	177419842	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:177419842G>A	uc003mif.1	-	3	858	c.549C>T	c.(547-549)GGC>GGT	p.G183G		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	183					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			AAGCAAAGGCGCCTCCTGTGG	0.652												
FLT4	2324	broad.mit.edu	37	5	180046728	180046728	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:180046728C>T	uc003mma.3	-	18	2663	c.2584G>A	c.(2584-2586)GCC>ACC	p.A862T	FLT4_uc003mlz.3_Missense_Mutation_p.A862T|FLT4_uc003mmb.1_Missense_Mutation_p.A395T	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	862	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGCGGAGGCTTCCACCACC	0.657									Congenital_Hereditary_Lymphedema			
F13A1	2162	broad.mit.edu	37	6	6196106	6196106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:6196106C>T	uc003mwv.2	-	10	1352	c.1229G>A	c.(1228-1230)TGT>TAT	p.C410Y	F13A1_uc011dib.1_Missense_Mutation_p.C347Y	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	410					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCGGGGCCACACCGATACAT	0.512												
PHACTR1	221692	broad.mit.edu	37	6	13283733	13283733	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:13283733A>G	uc010jpc.2	+	13	1921	c.1589A>G	c.(1588-1590)GAC>GGC	p.D530G	PHACTR1_uc003nah.1_Missense_Mutation_p.D530G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	530						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGTGGCTGACGCTCAGGAC	0.597												
CAP2	10486	broad.mit.edu	37	6	17507473	17507473	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:17507473G>A	uc003ncb.2	+	5	617	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.R99Q|CAP2_uc011djb.1_Missense_Mutation_p.R125Q|CAP2_uc011djc.1_Intron|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	125					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GAGAGAAACCGGGGGAGTAAC	0.493												
HLA-B	3106	broad.mit.edu	37	6	31324898	31324898	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31324898A>G	uc003nth.2	-	1	92	c.38T>C	c.(37-39)CTC>CCC	p.L13P	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.L13P|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GGCCGCCGAGAGCAGCAGGAG	0.711									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
AIF1	199	broad.mit.edu	37	6	31584639	31584639	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31584639G>T	uc003nuy.2	+	6	480	c.406G>T	c.(406-408)GGC>TGC	p.G136C	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.G82C	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	136				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						AAAGCCAACAGGCCCCCCAGC	0.488												
VARS	7407	broad.mit.edu	37	6	31760167	31760167	+	Splice_Site	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31760167A>G	uc003nxe.2	-	5	1209	c.786_splice	c.e5+1	p.E262_splice	VARS_uc011doi.1_Splice_Site	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCCTCGCCTCACCTCCCCTGG	0.532												
HSPA1L	3305	broad.mit.edu	37	6	31779676	31779676	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31779676T>C	uc003nxh.2	-	2	257	c.74A>G	c.(73-75)CAC>CGC	p.H25R	HSPA1L_uc010jte.2_Missense_Mutation_p.H25R	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	25					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CACCTTGCCGTGCTGGAACAC	0.607												
PRRT1	80863	broad.mit.edu	37	6	32117114	32117114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:32117114C>T	uc003nzt.2	-	4	922	c.806G>A	c.(805-807)CGG>CAG	p.R269Q	PRRT1_uc003nzs.2_Missense_Mutation_p.R310Q|PRRT1_uc003nzu.2_Silent_p.P161P	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	269					response to biotic stimulus	integral to membrane				breast(1)	1						GGAGAAGTTCCGGGCCTCGCG	0.647												
USP49	25862	broad.mit.edu	37	6	41767603	41767603	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:41767603T>C	uc003ori.2	-	6	1857	c.1635A>G	c.(1633-1635)CTA>CTG	p.L545L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	545					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAACCTGAGGTAGTCTGTAGA	0.488												
TTBK1	84630	broad.mit.edu	37	6	43252030	43252030	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:43252030G>A	uc003ouq.1	+	14	3831	c.3552G>A	c.(3550-3552)TTG>TTA	p.L1184L		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1184						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)			CCCCAGCATTGGACACAGCCA	0.682												
TMEM63B	55362	broad.mit.edu	37	6	44118039	44118039	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:44118039A>G	uc003owr.2	+	17	1663	c.1599A>G	c.(1597-1599)GGA>GGG	p.G533G	TMEM63B_uc003ows.2_Silent_p.G436G|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	533	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			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)			CCTCGCTGGGACTGAGCAGGT	0.587												
ICK	22858	broad.mit.edu	37	6	52869977	52869977	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:52869977G>A	uc003pbh.2	-	15	2359	c.1869C>T	c.(1867-1869)GAC>GAT	p.D623D	ICK_uc003pbi.2_Silent_p.D623D	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	623					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TGGAAGCCCAGTCTGTCCGGC	0.577												
BAI3	577	broad.mit.edu	37	6	70070837	70070837	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:70070837T>C	uc003pev.3	+	29	4120	c.3672T>C	c.(3670-3672)GAT>GAC	p.D1224D	BAI3_uc010kak.2_Silent_p.D1224D|BAI3_uc011dxx.1_Silent_p.D430D	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1224	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TAAATGATGATGAAGAAGAAA	0.413												
CD109	135228	broad.mit.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:74472143G>A	uc003php.2	+	8	1220	c.795G>A	c.(793-795)ACG>ACA	p.T265T	CD109_uc010kaz.2_Silent_p.T265T|CD109_uc003phq.2_Silent_p.T265T|CD109_uc010kba.2_Silent_p.T188T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGACGTAACGCTTACATTTT	0.294												
COL12A1	1303	broad.mit.edu	37	6	75855832	75855832	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:75855832T>C	uc003phs.2	-	24	4712	c.4546A>G	c.(4546-4548)ACA>GCA	p.T1516A	COL12A1_uc003pht.2_Missense_Mutation_p.T352A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1516	Fibronectin type-III 10.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTGGGTCTTGTTGGCTCTGTG	0.433												
IBTK	25998	broad.mit.edu	37	6	82950021	82950021	+	Silent	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:82950021G>T	uc003pjl.1	-	2	710	c.183C>A	c.(181-183)TCC>TCA	p.S61S	IBTK_uc011dyv.1_Silent_p.S61S|IBTK_uc011dyw.1_Silent_p.S61S|IBTK_uc010kbi.1_Translation_Start_Site|IBTK_uc003pjm.2_Silent_p.S61S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	61	ANK 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTTTCCACAGGAGGAAACAA	0.443												
SNAP91	9892	broad.mit.edu	37	6	84302947	84302947	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:84302947T>G	uc011dze.1	-	18	2045	c.1728A>C	c.(1726-1728)GCA>GCC	p.A576A	SNAP91_uc011dzd.1_Silent_p.A79A|SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Silent_p.A574A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Silent_p.A574A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	576	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTTAGGCGCTGCAGCAACTT	0.418												
CASP8AP2	9994	broad.mit.edu	37	6	90577062	90577062	+	Silent	SNP	C	C	T	rs147437828	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCTTAAGTGCGAGTCTATAC	0.408												
SFRS18	25957	broad.mit.edu	37	6	99857075	99857075	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:99857075G>T	uc003ppo.3	-	6	875	c.647C>A	c.(646-648)CCT>CAT	p.P216H	SFRS18_uc003ppp.3_Missense_Mutation_p.P216H|SFRS18_uc011eag.1_Missense_Mutation_p.P216H|SFRS18_uc003ppr.2_Missense_Mutation_p.P216H	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	216	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTGCTTCACAGGAAGTGCAAT	0.443												
MAN1A1	4121	broad.mit.edu	37	6	119670101	119670101	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:119670101G>A	uc003pym.1	-	2	572	c.130C>T	c.(130-132)CTG>TTG	p.L44L	MAN1A1_uc010kei.1_Silent_p.L44L	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	44	Helical; Signal-anchor for type II membrane protein; (Potential).			KGSGPAALRLTEKFVLLLV -> MNSNFITFDLKMSLLPSN L (in Ref. 2; CAA52831).	post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCAGCAGCAGCACGAACTTC	0.507												
TAAR1	134864	broad.mit.edu	37	6	132966361	132966361	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:132966361A>G	uc003qdm.1	-	1	782	c.782T>C	c.(781-783)CTA>CCA	p.L261P		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	261	Helical; Name=6; (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CCAGCATATTAGGAAAACTCC	0.378												
TXLNB	167838	broad.mit.edu	37	6	139563701	139563701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:139563701G>A	uc011eds.1	-	10	2182	c.2017C>T	c.(2017-2019)CGC>TGC	p.R673C		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	673						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCACGTTGCGCGGCTGGGGC	0.617												
SHPRH	257218	broad.mit.edu	37	6	146240594	146240594	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:146240594G>A	uc003qlf.2	-	22	4441	c.4042C>T	c.(4042-4044)CGT>TGT	p.R1348C	SHPRH_uc003qld.2_Missense_Mutation_p.R1352C|SHPRH_uc003qle.2_Missense_Mutation_p.R1352C|SHPRH_uc003qlg.1_Missense_Mutation_p.R904C|SHPRH_uc003qlh.2_Missense_Mutation_p.R273C|SHPRH_uc003qli.1_Missense_Mutation_p.R273C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1348					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCAGACACACGATTCCTCAGA	0.418												
TAB2	23118	broad.mit.edu	37	6	149700256	149700256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:149700256G>A	uc003qmj.2	+	3	1383	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	TAB2_uc011eec.1_Missense_Mutation_p.R370Q|TAB2_uc010kia.1_Missense_Mutation_p.R402Q|TAB2_uc010kib.1_Missense_Mutation_p.R402Q|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	402					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CAGGTCATGCGGAATCAGCCC	0.512												
LATS1	9113	broad.mit.edu	37	6	149983013	149983013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:149983013C>T	uc003qmu.1	-	8	3793	c.3245G>A	c.(3244-3246)AGG>AAG	p.R1082K	LATS1_uc010kif.1_Missense_Mutation_p.R977K	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1082	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATCAAAAAACCTTCGGAAGGT	0.363												
FOXK1	221937	broad.mit.edu	37	7	4794168	4794168	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:4794168C>T	uc003snc.1	+	3	835	c.825C>T	c.(823-825)GAC>GAT	p.D275D	FOXK1_uc003sna.1_Silent_p.D112D|FOXK1_uc003snb.1_Silent_p.D275D	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	275					cell differentiation|embryo development|muscle organ 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|magnesium ion 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			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TGACCTCGGACCTGCAGCTGG	0.642												
SNX13	23161	broad.mit.edu	37	7	17873707	17873707	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:17873707G>T	uc003stw.1	-	15	1778	c.1565C>A	c.(1564-1566)CCT>CAT	p.P522H	SNX13_uc003stv.2_Missense_Mutation_p.P522H|SNX13_uc010kuc.2_Missense_Mutation_p.P319H			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	522					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAAACTAGGATCTTTTAA	0.373												
RAPGEF5	9771	broad.mit.edu	37	7	22184666	22184666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:22184666C>T	uc003svg.2	-	20	2036	c.1723G>A	c.(1723-1725)GCT>ACT	p.A575T	RAPGEF5_uc011jyl.1_Missense_Mutation_p.A256T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	425	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						ACTTACTGAGCCGCAATTTTG	0.458												
ZNRF2	223082	broad.mit.edu	37	7	30395357	30395357	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:30395357T>C	uc003tat.2	+	3	1630	c.579T>C	c.(577-579)AGT>AGC	p.S193S		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	193						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						ATGTACTGAGTAAAGATGCTG	0.353												
NPC1L1	29881	broad.mit.edu	37	7	44555476	44555476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:44555476C>T	uc003tlb.2	-	19	3859	c.3803G>A	c.(3802-3804)CGC>CAC	p.R1268H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R1241H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R1195H|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1268	Cytoplasmic (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)	GAGGTTGAGGCGGAAGAAGAA	0.602												
ZMIZ2	83637	broad.mit.edu	37	7	44806214	44806214	+	Silent	SNP	G	G	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:44806214G>C	uc003tlr.2	+	18	2730	c.2607G>C	c.(2605-2607)GGG>GGC	p.G869G	ZMIZ2_uc003tlq.2_Silent_p.G811G|ZMIZ2_uc003tls.2_Silent_p.G843G|ZMIZ2_uc003tlt.2_Silent_p.G492G|ZMIZ2_uc010kyj.2_Silent_p.G391G|ZMIZ2_uc003tlu.2_Silent_p.G150G|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	869	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GCGTGATGGGGCCCCCCAGCA	0.667												
TNS3	64759	broad.mit.edu	37	7	47467961	47467961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:47467961C>T	uc003tnv.2	-	9	705	c.338G>A	c.(337-339)CGC>CAC	p.R113H	TNS3_uc003tnw.2_Missense_Mutation_p.R113H|TNS3_uc010kyo.1_Missense_Mutation_p.R113H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	113	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						CACTCCTATGCGTCCTTTCCC	0.478												
PKD1L1	168507	broad.mit.edu	37	7	47851451	47851451	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:47851451G>A	uc003tny.1	-	50	7545	c.7545C>T	c.(7543-7545)AGC>AGT	p.S2515S	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.S242S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2515	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGGCTGAGTCGCTGCGGAAGA	0.612												
FGL2	10875	broad.mit.edu	37	7	76828797	76828797	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:76828797T>C	uc003ugb.2	-	1	354	c.314A>G	c.(313-315)GAC>GGC	p.D105G	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	105	Potential.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						GTCTCCGTTGTCATCAGCCTG	0.473												
PCLO	27445	broad.mit.edu	37	7	82544043	82544043	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:82544043A>C	uc003uhx.2	-	7	13548	c.13259T>G	c.(13258-13260)TTC>TGC	p.F4420C	PCLO_uc003uhv.2_Missense_Mutation_p.F4420C|PCLO_uc010lec.2_Missense_Mutation_p.F1385C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4351					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATCCATGATGAATGCTATGTC	0.453												
PCLO	27445	broad.mit.edu	37	7	82580251	82580251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:82580251C>T	uc003uhx.2	-	6	9942	c.9653G>A	c.(9652-9654)CGT>CAT	p.R3218H	PCLO_uc003uhv.2_Missense_Mutation_p.R3218H|PCLO_uc010lec.2_Missense_Mutation_p.R183H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3149	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGAGCTCACGCTCCAAGTC	0.458												
ABCB4	5244	broad.mit.edu	37	7	87032472	87032472	+	Silent	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:87032472A>C	uc003uiv.1	-	27	3709	c.3633T>G	c.(3631-3633)GCT>GCG	p.A1211A	ABCB4_uc003uiw.1_Silent_p.A1204A|ABCB4_uc003uix.1_Silent_p.A1157A	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1211	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGTATCCAGAGCTGATGTAG	0.433												
STEAP2	261729	broad.mit.edu	37	7	89856641	89856641	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:89856641T>C	uc003ujz.2	+	3	1242	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	STEAP2_uc003ujy.2_Silent_p.Y325Y|STEAP2_uc010len.2_Silent_p.Y283Y|STEAP2_uc003uka.2_Silent_p.Y283Y|STEAP2_uc003ukb.2_Silent_p.Y283Y|STEAP2_uc003ukc.2_Silent_p.Y283Y|STEAP2_uc003ukd.2_Silent_p.Y283Y	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	283	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					ATCAACTTTATTACGGCACCA	0.408												
AKAP9	10142	broad.mit.edu	37	7	91712572	91712572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:91712572T>C	uc003ulg.2	+	33	8474	c.8249T>C	c.(8248-8250)TTA>TCA	p.L2750S	AKAP9_uc003ulf.2_Missense_Mutation_p.L2742S|AKAP9_uc003uli.2_Missense_Mutation_p.L2373S|AKAP9_uc003ulj.2_Missense_Mutation_p.L520S|AKAP9_uc003ulk.2_Missense_Mutation_p.L25S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2762	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGTCCATTTTAGAAAAAGAA	0.383			T	BRAF	papillary thyroid							
COL1A2	1278	broad.mit.edu	37	7	94056940	94056940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:94056940G>A	uc003ung.1	+	49	3740	c.3269G>A	c.(3268-3270)GGC>GAC	p.G1090D	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1090					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)	CCTTTGCAGGGCCCCCCTGGT	0.532										HNSCC(75;0.22)		
DLX6	1750	broad.mit.edu	37	7	96639211	96639211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:96639211C>T	uc003uom.2	+	4	650	c.650C>T	c.(649-651)TCG>TTG	p.S217L	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	127					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	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)					GCGGCCCTGTCGCCACGCTCG	0.577												
TRRAP	8295	broad.mit.edu	37	7	98567799	98567799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:98567799C>T	uc003upp.2	+	51	7765	c.7556C>T	c.(7555-7557)CCG>CTG	p.P2519L	TRRAP_uc011kis.1_Missense_Mutation_p.P2501L|TRRAP_uc003upr.2_Missense_Mutation_p.P2218L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2519					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)			GCCATGCTCCCGTCCATCACC	0.627												
LRRN3	54674	broad.mit.edu	37	7	110762919	110762919	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:110762919C>A	uc003vft.3	+	4	1137	c.91C>A	c.(91-93)CGG>AGG	p.R31R	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.R31R|LRRN3_uc003vfs.3_Silent_p.R31R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	31	Extracellular (Potential).|LRRNT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		GGATTGTCCACGGTTATGTAC	0.408												
FOXP2	93986	broad.mit.edu	37	7	114269985	114269985	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:114269985A>G	uc003vhb.2	+	5	896	c.522A>G	c.(520-522)CAA>CAG	p.Q174Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q199Q|FOXP2_uc003vha.2_Silent_p.Q82Q|FOXP2_uc011kmu.1_Silent_p.Q191Q|FOXP2_uc011kmv.1_Silent_p.Q174Q|FOXP2_uc010ljz.1_Silent_p.Q82Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q174Q|FOXP2_uc003vgx.2_Silent_p.Q174Q|FOXP2_uc003vhd.2_Silent_p.Q174Q|FOXP2_uc003vhc.2_Silent_p.Q199Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	174	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q174*(1)		ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						aacaacaacaacagcagcaac	0.164												
SPAM1	6677	broad.mit.edu	37	7	123594028	123594028	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:123594028T>C	uc003vld.2	+	4	806	c.404T>C	c.(403-405)ATG>ACG	p.M135T	SPAM1_uc003vle.2_Missense_Mutation_p.M135T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.M135T|SPAM1_uc010lku.2_Missense_Mutation_p.M135T	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	135					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	ACATTTTATATGCCAGTAGAC	0.398												
OPN1SW	611	broad.mit.edu	37	7	128415565	128415565	+	Missense_Mutation	SNP	C	C	T	rs144400933		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:128415565C>T	uc003vnt.3	-	1	280	c.280G>A	c.(280-282)GCC>ACC	p.A94T		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	94	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						TTACAGCTGGCGACGAAGACA	0.552												
FLNC	2318	broad.mit.edu	37	7	128489424	128489424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:128489424C>T	uc003vnz.3	+	30	5200	c.4991C>T	c.(4990-4992)ACG>ATG	p.T1664M	FLNC_uc003voa.3_Missense_Mutation_p.T1664M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1664	Filamin 15.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGCAGGAGACGGTGATCACG	0.642												
MEST	4232	broad.mit.edu	37	7	130144785	130144785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:130144785C>T	uc003vqg.2	+	12	1113	c.896C>T	c.(895-897)ACG>ATG	p.T299M	MEST_uc003vqc.2_Missense_Mutation_p.T290M|MEST_uc003vqd.2_Missense_Mutation_p.T256M|MEST_uc003vqf.2_Missense_Mutation_p.T290M|MEST_uc011kph.1_Missense_Mutation_p.T285M|MEST_uc010lmg.2_Missense_Mutation_p.R278C	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	299					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					ACTAGGAAAACGCTGCCGCGG	0.537												
TAS2R40	259286	broad.mit.edu	37	7	142919775	142919775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:142919775A>G	uc011ksx.1	+	1	604	c.604A>G	c.(604-606)ATC>GTC	p.I202V		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	202	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					TAACATGGGGATCTTCGTTCC	0.493												
TAS2R60	338398	broad.mit.edu	37	7	143141266	143141266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:143141266G>A	uc011ktg.1	+	1	721	c.721G>A	c.(721-723)GCA>ACA	p.A241T	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	241	Helical; Name=6; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					CAGTGTGCAGGCACACATAAA	0.473												
CNTNAP2	26047	broad.mit.edu	37	7	146536934	146536934	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:146536934C>A	uc003weu.1	+	3	856	c.340C>A	c.(340-342)CGG>AGG	p.R114R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	114	F5/8 type C.|Extracellular (Potential).		R -> Q.		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)			GACCCAATACCGGATGCTCTA	0.473										HNSCC(39;0.1)		
MLL3	58508	broad.mit.edu	37	7	151871239	151871239	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:151871239G>A	uc003wla.2	-	39	9570	c.9351C>T	c.(9349-9351)GGC>GGT	p.G3117G	MLL3_uc003wkz.2_Silent_p.G2178G|MLL3_uc003wky.2_Silent_p.G626G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3117	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)		TTGGTGGCATGCCCAGATTGT	0.373			N		medulloblastoma							
HTR5A	3361	broad.mit.edu	37	7	154875885	154875885	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:154875885G>T	uc003wlu.1	+	2	826	c.762G>T	c.(760-762)CAG>CAT	p.Q254H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	254	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGCCAAACAGCCCCAGATGG	0.617												
TNKS	8658	broad.mit.edu	37	8	9609294	9609294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:9609294C>T	uc003wss.2	+	19	3013	c.3008C>T	c.(3007-3009)GCC>GTC	p.A1003V	TNKS_uc011kww.1_Missense_Mutation_p.A766V|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1003					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GCAGAGTTGGCCGTAGGAGGA	0.547												
ADAM7	8756	broad.mit.edu	37	8	24304725	24304725	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:24304725T>C	uc003xeb.2	+	3	296	c.183T>C	c.(181-183)TAT>TAC	p.Y61Y	ADAM7_uc003xea.1_Silent_p.Y61Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	61	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AATTGTTGTATGAAATAAAAC	0.343												
PRKDC	5591	broad.mit.edu	37	8	48848299	48848299	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:48848299A>G	uc003xqi.2	-	13	1497	c.1440T>C	c.(1438-1440)AGT>AGC	p.S480S	PRKDC_uc003xqj.2_Silent_p.S480S|PRKDC_uc011ldh.1_Silent_p.S480S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	480					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACCCACAGTACTAATGCAAT	0.373								NHEJ				
XKR4	114786	broad.mit.edu	37	8	56015465	56015465	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:56015465C>T	uc003xsf.2	+	1	449	c.417C>T	c.(415-417)CGC>CGT	p.R139R		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	139						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACTACCTGCGCGGCCAGCGCT	0.632												
VCPIP1	80124	broad.mit.edu	37	8	67577294	67577294	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:67577294A>C	uc003xwn.2	-	1	2159	c.1900T>G	c.(1900-1902)TTT>GTT	p.F634V	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	634					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)			TCACCTGGAAAGTGCTTGGTA	0.368												
ARFGEF1	10565	broad.mit.edu	37	8	68111330	68111330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:68111330T>C	uc003xxo.1	-	39	5779	c.5389A>G	c.(5389-5391)AAA>GAA	p.K1797E	ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_Missense_Mutation_p.K200E|ARFGEF1_uc003xxn.1_Missense_Mutation_p.K742E|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1797					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCATGAGCTTTAAACTGCAGG	0.403												
C8orf34	116328	broad.mit.edu	37	8	69434189	69434189	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:69434189C>T	uc010lyz.2	+	6	712	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C8orf34_uc010lyy.1_Silent_p.G221G|C8orf34_uc003xyb.2_Silent_p.G196G	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	221					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGATAGTGGCTCTAGTCCTG	0.403												
EYA1	2138	broad.mit.edu	37	8	72123448	72123448	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:72123448T>C	uc003xys.3	-	16	1928	c.1641A>G	c.(1639-1641)AGA>AGG	p.R547R	EYA1_uc003xyr.3_Silent_p.R512R|EYA1_uc003xyt.3_Silent_p.R514R|EYA1_uc010lzf.2_Silent_p.R474R|EYA1_uc003xyu.2_Silent_p.R547R|EYA1_uc011lfe.1_Silent_p.R541R|EYA1_uc003xyv.2_Silent_p.R425R	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	547			R -> G (in anterior segment anomalies; with cataract).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACACCACTTTTCTTCCAAACC	0.348												
ZNF704	619279	broad.mit.edu	37	8	81733851	81733851	+	Splice_Site	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:81733851C>T	uc003yby.1	-	2	212	c.-20_splice	c.e2-1			NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704							intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTCCCCACCTGTGAAATGA	0.428												
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:85774590G>A	uc003ycq.3	+	7	889	c.473G>A	c.(472-474)CGT>CAT	p.R158H	RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	158							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						CCGCTGAAGCGTCCCAGAGTG	0.507												
TMEM67	91147	broad.mit.edu	37	8	94793160	94793160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:94793160C>T	uc011lgk.1	+	9	999	c.928C>T	c.(928-930)CTC>TTC	p.L310F	TMEM67_uc010mat.1_Missense_Mutation_p.L225F|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.L229F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	310					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACCTCAAGTGCTCAGTTCTAC	0.323												
CSMD3	114788	broad.mit.edu	37	8	113318350	113318350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:113318350G>A	uc003ynu.2	-	51	8116	c.7957C>T	c.(7957-7959)CGA>TGA	p.R2653*	CSMD3_uc003yns.2_Nonsense_Mutation_p.R1855*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.R2613*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R2549*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2653	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAGGTAACTCGCGTTCCTACC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
EXT1	2131	broad.mit.edu	37	8	118831966	118831966	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:118831966C>A	uc003yok.1	-	6	2258	c.1485G>T	c.(1483-1485)CAG>CAT	p.Q495H		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	495	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCAACACTGGCTGGGACTGAG	0.557			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
COL22A1	169044	broad.mit.edu	37	8	139649029	139649029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:139649029C>T	uc003yvd.2	-	48	3958	c.3511G>A	c.(3511-3513)GGA>AGA	p.G1171R	COL22A1_uc011ljo.1_Missense_Mutation_p.G451R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1171	Pro-rich.|Gly-rich.|Collagen-like 11.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACGTTCTCCTTGACTTCCC	0.333										HNSCC(7;0.00092)		
TRAPPC9	83696	broad.mit.edu	37	8	141321405	141321405	+	Missense_Mutation	SNP	C	C	T	rs148453804	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:141321405C>T	uc003yvj.2	-	10	1698	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	TRAPPC9_uc003yvh.2_Missense_Mutation_p.A620T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A513T	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	522					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CCAGGGAGGGCGATGGGCTCC	0.552												
TSNARE1	203062	broad.mit.edu	37	8	143427155	143427155	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:143427155C>A	uc003ywk.2	-	3	305	c.187G>T	c.(187-189)GGT>TGT	p.G63C	TSNARE1_uc011lju.1_Missense_Mutation_p.G63C|TSNARE1_uc003ywj.2_Missense_Mutation_p.G63C|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	63					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCAGATCACCTTCCCCGTCC	0.622												
BAI1	575	broad.mit.edu	37	8	143558823	143558823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:143558823C>T	uc003ywm.2	+	5	1483	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	434	Extracellular (Potential).|TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGATCGCACGCGCACCTGCAG	0.647												
RANBP6	26953	broad.mit.edu	37	9	6013657	6013657	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:6013657A>C	uc003zjr.2	-	1	1962	c.1951T>G	c.(1951-1953)TTA>GTA	p.L651V	RANBP6_uc011lmf.1_Missense_Mutation_p.L299V|RANBP6_uc003zjs.2_Missense_Mutation_p.L239V	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	651					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGTGTGTCTAAGAGAGCAACA	0.388												
PTPRD	5789	broad.mit.edu	37	9	8484205	8484205	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:8484205A>G	uc003zkk.2	-	29	4038	c.3327T>C	c.(3325-3327)CGT>CGC	p.R1109R	PTPRD_uc003zkp.2_Silent_p.R698R|PTPRD_uc003zkq.2_Silent_p.R698R|PTPRD_uc003zkr.2_Silent_p.R693R|PTPRD_uc003zks.2_Silent_p.R688R|PTPRD_uc003zkl.2_Silent_p.R1100R|PTPRD_uc003zkm.2_Silent_p.R1096R|PTPRD_uc003zkn.2_Silent_p.R698R|PTPRD_uc003zko.2_Silent_p.R695R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1109	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGGCTTGGTACGTAATACAT	0.453										TSP Lung(15;0.13)		
BNC2	54796	broad.mit.edu	37	9	16435990	16435990	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:16435990G>A	uc003zml.2	-	6	2342	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	BNC2_uc011lmw.1_Silent_p.G639G|BNC2_uc003zmm.2_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.1_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.2_Silent_p.G499G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517												
CNTLN	54875	broad.mit.edu	37	9	17226276	17226276	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:17226276A>C	uc003zmz.2	+	3	551	c.525A>C	c.(523-525)GAA>GAC	p.E175D	CNTLN_uc003zmx.3_Missense_Mutation_p.E175D|CNTLN_uc003zmy.2_Missense_Mutation_p.E175D	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	175						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATACAAGAATTTGAACAGG	0.244												
ADAMTSL1	92949	broad.mit.edu	37	9	18574264	18574264	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:18574264A>G	uc003zne.3	+	4	601	c.474A>G	c.(472-474)CAA>CAG	p.Q158Q	ADAMTSL1_uc003znb.2_Silent_p.Q158Q|ADAMTSL1_uc003znc.3_Silent_p.Q158Q	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	158						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTTATGCCAAGTAAGTGCTG	0.403												
ACER2	340485	broad.mit.edu	37	9	19424786	19424786	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19424786T>G	uc003zny.1	+	3	470	c.312T>G	c.(310-312)GCT>GCG	p.A104A	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Silent_p.A55A	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	104	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TGATGTGTGCTTTGGCCATGT	0.443												
SLC24A2	25769	broad.mit.edu	37	9	19516258	19516258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19516258G>A	uc003zoa.1	-	10	1941	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	SLC24A2_uc003zob.1_Nonsense_Mutation_p.R610*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	627	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTGTTCATTCGCCACTTGCAG	0.512												
IFT74	80173	broad.mit.edu	37	9	26984556	26984556	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:26984556T>C	uc010mja.2	+	6	591	c.464T>C	c.(463-465)ATG>ACG	p.M155T	IFT74_uc010mjb.2_Missense_Mutation_p.M155T|IFT74_uc003zqf.3_Missense_Mutation_p.M155T|IFT74_uc003zqg.3_Missense_Mutation_p.M155T	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	155	Potential.					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GACTACAACATGGTATTTTAT	0.239												
C9orf72	203228	broad.mit.edu	37	9	27566788	27566788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:27566788C>T	uc003zqq.2	-	2	428	c.331G>A	c.(331-333)GGA>AGA	p.G111R	C9orf72_uc003zqr.1_Missense_Mutation_p.G111R	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	111										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATTGATAGTCCATATGTGCTG	0.363												
TAF1L	138474	broad.mit.edu	37	9	32635575	32635575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:32635575C>T	uc003zrg.1	-	1	93	c.3G>A	c.(1-3)ATG>ATA	p.M1I	uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCCGGGTCGCATAAACCGGA	0.572												
PRSS3	5646	broad.mit.edu	37	9	33797910	33797910	+	Missense_Mutation	SNP	G	G	A	rs146360076	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:33797910G>A	uc003ztj.3	+	3	455	c.455G>A	c.(454-456)CGC>CAC	p.R152H	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.R109H|PRSS3_uc003ztl.3_Missense_Mutation_p.R95H	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	152	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			AAGATCATCCGCCACCCTAAA	0.547												
PIGO	84720	broad.mit.edu	37	9	35091339	35091339	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35091339G>A	uc003zwd.2	-	7	2941	c.2545C>T	c.(2545-2547)CTG>TTG	p.L849L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.L412L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	849	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCATGCAACAGCAGAAGTGGG	0.562												
RUSC2	9853	broad.mit.edu	37	9	35558504	35558504	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35558504A>G	uc003zww.2	+	8	3536	c.3281A>G	c.(3280-3282)CAA>CGA	p.Q1094R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.Q1094R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1094	RUN.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGTCAGCCAATTCCCAGAG	0.542												
OR13J1	392309	broad.mit.edu	37	9	35869672	35869672	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35869672C>T	uc011lph.1	-	1	727	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCCAGGTGTGCCAAGCAGGTG	0.557												
TMEM2	23670	broad.mit.edu	37	9	74360369	74360369	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:74360369G>A	uc011lsa.1	-	4	1139	c.599C>T	c.(598-600)GCG>GTG	p.A200V	TMEM2_uc010mos.2_Missense_Mutation_p.A200V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	200	G8.					integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGTAATTGTCGCTTTGGATTT	0.433												
GNAQ	2776	broad.mit.edu	37	9	80336240	80336240	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:80336240T>C	uc004akw.2	-	7	1120	c.1079A>G	c.(1078-1080)TAA>TGA	p.*360*	GNAQ_uc011lso.1_Silent_p.*158*|GNAQ_uc004akv.1_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	360					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						GAGGCACAATTAGACCAGATT	0.488			Mis		uveal melanoma							
PHF2	5253	broad.mit.edu	37	9	96428055	96428055	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:96428055T>C	uc004aub.2	+	15	2172	c.2025T>C	c.(2023-2025)GAT>GAC	p.D675D	PHF2_uc011lug.1_Silent_p.D558D|PHF2_uc004auc.2_Silent_p.D94D	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	675					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)		CCGTGCGGGATGAGTATGAGT	0.582												
PTPDC1	138639	broad.mit.edu	37	9	96860859	96860859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:96860859C>T	uc004auf.1	+	7	2189	c.1849C>T	c.(1849-1851)CAG>TAG	p.Q617*	PTPDC1_uc004aug.1_Intron|PTPDC1_uc004auh.1_Nonsense_Mutation_p.Q669*|PTPDC1_uc010mrj.1_Nonsense_Mutation_p.Q671*|PTPDC1_uc010mri.1_Nonsense_Mutation_p.Q669*	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	617							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						AGAAATGTGGCAGGTATTATT	0.333												
OR13C9	286362	broad.mit.edu	37	9	107379859	107379859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:107379859C>T	uc011lvr.1	-	1	627	c.627G>A	c.(625-627)ATG>ATA	p.M209I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGAGCAGTGGCATCAATGTGA	0.433												
MUSK	4593	broad.mit.edu	37	9	113530131	113530131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:113530131G>A	uc004bey.2	+	8	1050	c.952G>A	c.(952-954)GCC>ACC	p.A318T		NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	318	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						AGGCTACTGCGCCCAGTACAG	0.433												
SUSD1	64420	broad.mit.edu	37	9	114905868	114905868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:114905868G>A	uc004bfu.2	-	4	450	c.409C>T	c.(409-411)CAT>TAT	p.H137Y	SUSD1_uc010mui.2_Missense_Mutation_p.H137Y|SUSD1_uc010muj.2_Missense_Mutation_p.H137Y	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	137	EGF-like 3; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CGCCCTCCATGCCTGCACAGG	0.418												
RGS3	5998	broad.mit.edu	37	9	116353631	116353631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:116353631G>A	uc004bhq.2	+	22	3243	c.3034G>A	c.(3034-3036)GTT>ATT	p.V1012I	RGS3_uc004bhs.2_Missense_Mutation_p.V902I|RGS3_uc004bht.2_Missense_Mutation_p.V731I|RGS3_uc010muy.2_Missense_Mutation_p.V405I|RGS3_uc004bhv.2_Missense_Mutation_p.V333I|RGS3_uc010muz.1_Missense_Mutation_p.V351I|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.V322I|RGS3_uc004bhx.2_Missense_Mutation_p.V333I|RGS3_uc004bhy.1_Missense_Mutation_p.V322I|RGS3_uc004bhz.2_Missense_Mutation_p.V354I|RGS3_uc004bia.2_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1012					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GGCTGACACCGTTGGGGATGA	0.572												
AKNA	80709	broad.mit.edu	37	9	117122197	117122197	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:117122197A>T	uc004biq.3	-	9	2405	c.2270T>A	c.(2269-2271)GTT>GAT	p.V757D	AKNA_uc004bin.3_Missense_Mutation_p.V4D|AKNA_uc004bio.3_Missense_Mutation_p.V217D|AKNA_uc004bip.3_Missense_Mutation_p.V676D|AKNA_uc004bir.3_Missense_Mutation_p.V757D|AKNA_uc004bis.3_Missense_Mutation_p.V757D|AKNA_uc010mve.2_Missense_Mutation_p.V638D|AKNA_uc004biu.1_Missense_Mutation_p.V498D|AKNA_uc004biv.1_Missense_Mutation_p.V757D	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						GCCATGGTAAACTTGCTCCAT	0.617												
C9orf91	203197	broad.mit.edu	37	9	117379548	117379548	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:117379548C>A	uc004bjd.3	+	2	290	c.73C>A	c.(73-75)CTG>ATG	p.L25M	C9orf91_uc004bje.3_Translation_Start_Site	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	25						integral to membrane				pancreas(1)	1						CTGGAGTGCCCTGCCTGGAGG	0.617												
TRIM32	22954	broad.mit.edu	37	9	119461306	119461306	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:119461306C>A	uc004bjx.2	+	2	1443	c.1285C>A	c.(1285-1287)CTC>ATC	p.L429I	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.L429I	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	429	NHL 2.				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						TCTACCCAACCTCACTCCTCT	0.512									Bardet-Biedl_syndrome			
OR1L3	26735	broad.mit.edu	37	9	125437522	125437522	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:125437522T>C	uc011lzb.1	+	1	114	c.114T>C	c.(112-114)ACT>ACC	p.T38T		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACCTGGTCACTTTGATGGGAA	0.428												
OR5C1	392391	broad.mit.edu	37	9	125551855	125551855	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:125551855T>C	uc011lzd.1	+	1	644	c.644T>C	c.(643-645)GTG>GCG	p.V215A		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACAGCCACGGTGTTAGCTATC	0.582												
DNM1	1759	broad.mit.edu	37	9	130980885	130980885	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:130980885A>G	uc011mau.1	+	3	347	c.260A>G	c.(259-261)AAG>AGG	p.K87R	DNM1_uc010mxr.2_Missense_Mutation_p.K87R|DNM1_uc011mat.1_Missense_Mutation_p.K87R	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	87					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						CTGCACTGCAAGGGAAAGAAA	0.597												
TBC1D13	54662	broad.mit.edu	37	9	131570101	131570101	+	Silent	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:131570101C>A	uc010myj.2	+	12	1269	c.1146C>A	c.(1144-1146)CCC>CCA	p.P382P	TBC1D13_uc010myk.2_Silent_p.P257P|TBC1D13_uc010myl.2_Silent_p.P201P	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	382						intracellular	Rab GTPase activator activity				0						AGGACTACCCCATCACAGATG	0.607												
LAMC3	10319	broad.mit.edu	37	9	133901811	133901811	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:133901811C>T	uc004caa.1	+	2	611	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	171	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAAGACCTACGGCCGGCCCG	0.677												
GTF3C5	9328	broad.mit.edu	37	9	135917576	135917576	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:135917576C>A	uc004cci.3	+	2	593	c.256C>A	c.(256-258)CTC>ATC	p.L86I	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.L86I	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	86						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAGCCTGCTGCTCCGCATCAG	0.607												
RXRA	6256	broad.mit.edu	37	9	137328407	137328407	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:137328407C>T	uc004cfb.2	+	10	1498	c.1336C>T	c.(1336-1338)CCC>TCC	p.P446S	RXRA_uc004cfc.1_Missense_Mutation_p.P349S	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	446	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CGGGGACACACCCATTGACAC	0.597												
CAMSAP1	157922	broad.mit.edu	37	9	138703390	138703390	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:138703390G>A	uc004cgr.3	-	17	4574	c.4574C>T	c.(4573-4575)GCG>GTG	p.A1525V	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1415V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A1247V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1525	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCAGTAAAGCGCCCTGAACTG	0.458												
NOTCH1	4851	broad.mit.edu	37	9	139409854	139409854	+	Splice_Site	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139409854T>C	uc004chz.2	-	12	1904	c.1904_splice	c.e12-1	p.G635_splice	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTTGGGTCCTGAAGGGGTGG	0.682			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf172	389813	broad.mit.edu	37	9	139739752	139739752	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139739752G>A	uc011meh.1	+	1	886	c.886G>A	c.(886-888)GCC>ACC	p.A296T	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	296	Pro-rich.										0						CAGCTTTGCAGCCAGTCCCGG	0.682												
ARSE	415	broad.mit.edu	37	X	2878425	2878425	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:2878425T>C	uc004crc.3	-	2	267	c.17A>G	c.(16-18)CAT>CGT	p.H6R	ARSE_uc011mhi.1_Missense_Mutation_p.H6R|ARSE_uc011mhh.1_5'UTR	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	6					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTACCAAGAATGGTGCAGATG	0.244												
KAL1	3730	broad.mit.edu	37	X	8555928	8555928	+	Silent	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:8555928A>C	uc004csf.2	-	5	783	c.633T>G	c.(631-633)TCT>TCG	p.S211S		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	211	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CAGGCTCAATAGAAATATTGA	0.463												
KAL1	3730	broad.mit.edu	37	X	8555953	8555953	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:8555953T>G	uc004csf.2	-	5	758	c.608A>C	c.(607-609)AAG>ACG	p.K203T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	203	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CGAGGACCACTTAACCTCCAG	0.438												
WWC3	55841	broad.mit.edu	37	X	10094344	10094344	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:10094344C>T	uc004csx.3	+	15	2302	c.2104C>T	c.(2104-2106)CTG>TTG	p.L702L	WWC3_uc010nds.2_Silent_p.L366L|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	702	C2.									ovary(4)	4						GGAAGAACTGCTGGTATGGCG	0.517												
WWC3	55841	broad.mit.edu	37	X	10106971	10106971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:10106971C>T	uc004csx.3	+	21	3277	c.3079C>T	c.(3079-3081)CGG>TGG	p.R1027W	WWC3_uc010nds.2_Missense_Mutation_p.R691W|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	1027	Potential.									ovary(4)	4						GGAGGCCGAGCGGCAGGTGGG	0.711												
ASB11	140456	broad.mit.edu	37	X	15307687	15307687	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:15307687A>G	uc004cwp.1	-	5	594	c.594T>C	c.(592-594)ACT>ACC	p.T198T	ASB11_uc004cwo.1_Silent_p.T177T|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.T181T	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	198	ANK 5.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CATATAGGGGAGTTCCGAGCT	0.443												
SH3KBP1	30011	broad.mit.edu	37	X	19626152	19626152	+	Silent	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:19626152G>A	uc004czm.2	-	9	1225	c.909C>T	c.(907-909)GAC>GAT	p.D303D	SH3KBP1_uc011mje.1_Silent_p.D42D|SH3KBP1_uc011mjf.1_Silent_p.D65D|SH3KBP1_uc004czl.2_Silent_p.D266D	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	303	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						ACCAGCCTACGTCGATGCAGT	0.537												
YY2	404281	broad.mit.edu	37	X	21875159	21875159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:21875159C>T	uc011mjp.1	+	1	557	c.557C>T	c.(556-558)ACT>ATT	p.T186I	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.T404I|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTTTCCGTGACTATGTGGTCC	0.542												
FAM48B1	100130302	broad.mit.edu	37	X	24381937	24381937	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24381937A>G	uc011mjx.1	+	1	1060	c.1060A>G	c.(1060-1062)ATC>GTC	p.I354V		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CAAGCCAAGCATCATGCAGTC	0.552												
POLA1	5422	broad.mit.edu	37	X	24742543	24742543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24742543A>G	uc004dbl.2	+	12	1297	c.1274A>G	c.(1273-1275)TAT>TGT	p.Y425C	POLA1_uc004dbm.2_Missense_Mutation_p.Y431C|POLA1_uc004dbn.2_Missense_Mutation_p.Y289C	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	425					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	GCAACAAAATATAAAATTATG	0.299												
CXorf22	170063	broad.mit.edu	37	X	35938122	35938122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:35938122G>A	uc004ddj.2	+	1	265	c.206G>A	c.(205-207)CGC>CAC	p.R69H	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	69										large_intestine(1)|lung(1)|ovary(1)	3						AATATTTGCCGCTGGAACCAG	0.582												
XK	7504	broad.mit.edu	37	X	37553709	37553709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:37553709C>T	uc004ddq.2	+	2	498	c.416C>T	c.(415-417)GCG>GTG	p.A139V		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	139	Extracellular (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTCAGCCGGGCGTCGGTGATC	0.547												
DUSP21	63904	broad.mit.edu	37	X	44703932	44703932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:44703932G>A	uc004dgd.2	+	1	684	c.554G>A	c.(553-555)CGT>CAT	p.R185H		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	185						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						AAGGACCTACGTATGATGATA	0.448												
SLC9A7	84679	broad.mit.edu	37	X	46508175	46508175	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:46508175A>C	uc004dgu.1	-	11	1413	c.1405T>G	c.(1405-1407)TTG>GTG	p.L469V		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	469					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						CTTCTGCCCAAGTTGAGGAAG	0.453												
ZNF41	7592	broad.mit.edu	37	X	47308161	47308161	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:47308161A>G	uc004dhs.3	-	4	1201	c.1134T>C	c.(1132-1134)TTT>TTC	p.F378F	ZNF41_uc004dhu.3_Silent_p.F370F|ZNF41_uc004dht.3_Silent_p.F250F|ZNF41_uc004dhv.3_Silent_p.F346F|ZNF41_uc004dhw.3_Silent_p.F338F|ZNF41_uc004dhy.3_Silent_p.F336F|ZNF41_uc004dhx.3_Silent_p.F336F|ZNF41_uc011mlm.1_Silent_p.F250F	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	378	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				ATTTGAGGGTAAAGACTTTCC	0.413												
WDR13	64743	broad.mit.edu	37	X	48458724	48458724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:48458724G>A	uc004dkh.1	+	6	688	c.541G>A	c.(541-543)GCC>ACC	p.A181T	WDR13_uc010nif.1_Missense_Mutation_p.A59T|WDR13_uc004dki.1_Missense_Mutation_p.A89T|WDR13_uc004dkj.1_Missense_Mutation_p.A181T|WDR13_uc004dkk.1_Missense_Mutation_p.A89T|WDR13_uc004dkl.3_Missense_Mutation_p.A89T|WDR13_uc011mme.1_Missense_Mutation_p.A59T	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	181	WD 1.					cytoplasm|nucleus				ovary(2)	2						GGTGCGCTTCGCCAATGATGA	0.597												
AKAP4	8852	broad.mit.edu	37	X	49957256	49957256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:49957256G>A	uc004dow.1	-	5	2232	c.2108C>T	c.(2107-2109)TCT>TTT	p.S703F	AKAP4_uc004dov.1_Missense_Mutation_p.S320F|AKAP4_uc010njp.1_Missense_Mutation_p.S525F|AKAP4_uc004dou.1_Missense_Mutation_p.S694F	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	703					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CTTCATCACAGATTCTACTAG	0.463												
AKAP4	8852	broad.mit.edu	37	X	49958092	49958092	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:49958092C>A	uc004dow.1	-	5	1396	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E246D|AKAP4_uc004dou.1_Missense_Mutation_p.E415D	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	424					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TCAGCATGGCCTCCATGATGT	0.453												
XAGE3	170626	broad.mit.edu	37	X	52893814	52893814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:52893814C>T	uc004dre.2	-	4	363	c.303G>A	c.(301-303)ATG>ATA	p.M101I	XAGE3_uc004drf.2_Missense_Mutation_p.M101I	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN	XAGE-3 protein	101											0						CTCCTTCTGGCATTTTAAATT	0.378												
GNL3L	54552	broad.mit.edu	37	X	54559016	54559016	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:54559016A>G	uc004dth.1	+	2	156	c.17A>G	c.(16-18)CAC>CGC	p.H6R	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	6					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						AAACTTAGACACAGTGAGTTT	0.348												
FAM123B	139285	broad.mit.edu	37	X	63411827	63411827	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:63411827C>A	uc004dvo.2	-	2	1613	c.1340G>T	c.(1339-1341)GGC>GTC	p.G447V		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	447					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						AGGGGCTAGGCCAGGATAAGA	0.532												
FOXO4	4303	broad.mit.edu	37	X	70320655	70320655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70320655G>A	uc004dys.1	+	2	928	c.575G>A	c.(574-576)CGC>CAC	p.R192H	FOXO4_uc010nkz.2_Missense_Mutation_p.R192H|FOXO4_uc004dyt.1_Missense_Mutation_p.R137H	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	192					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AAAgccccccgccgccgggcc	0.517											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACRC	93953	broad.mit.edu	37	X	70824105	70824105	+	Missense_Mutation	SNP	T	T	A	rs151063209		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70824105T>A	uc004eae.2	+	8	1479	c.978T>A	c.(976-978)GAT>GAA	p.D326E	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	326	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					ATGTTCCCGATGACAATAGTG	0.478												
ACRC	93953	broad.mit.edu	37	X	70824111	70824111	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70824111T>G	uc004eae.2	+	8	1485	c.984T>G	c.(982-984)AAT>AAG	p.N328K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	328	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CCGATGACAATAGTGATGATT	0.483												
KIAA2022	340533	broad.mit.edu	37	X	73959959	73959959	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:73959959C>A	uc004eby.2	-	3	5050	c.4433G>T	c.(4432-4434)GGG>GTG	p.G1478V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1478					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGAAGCTGTCCCAGACTCATC	0.473												
P2RY10	27334	broad.mit.edu	37	X	78216820	78216820	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:78216820T>C	uc004ede.2	+	4	1172	c.803T>C	c.(802-804)ATG>ACG	p.M268T	P2RY10_uc004edf.2_Missense_Mutation_p.M268T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	268	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TTTTACACCATGGTAAAGGAA	0.448												
POU3F4	5456	broad.mit.edu	37	X	82764202	82764202	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:82764202G>T	uc004eeg.2	+	1	934	c.870G>T	c.(868-870)AAG>AAT	p.K290N		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	290	Homeobox.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGAGTGTCAAGGGCGTACTGG	0.612												
DACH2	117154	broad.mit.edu	37	X	85950100	85950100	+	Silent	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:85950100T>G	uc004eew.2	+	5	1019	c.849T>G	c.(847-849)GCT>GCG	p.A283A	DACH2_uc004eex.2_Silent_p.A270A|DACH2_uc010nmq.2_Silent_p.A149A|DACH2_uc011mra.1_Silent_p.A116A|DACH2_uc010nmr.2_Silent_p.A64A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						ATGGAATTGCTCATGCAGCCC	0.478												
TGIF2LX	90316	broad.mit.edu	37	X	89177518	89177518	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:89177518A>C	uc004efe.2	+	2	483	c.434A>C	c.(433-435)AAG>ACG	p.K145T		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGCCGGCCAAGTCAGGGCCC	0.592												
DIAPH2	1730	broad.mit.edu	37	X	96502819	96502819	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:96502819A>C	uc004efu.3	+	23	3221	c.2825A>C	c.(2824-2826)AAG>ACG	p.K942T	DIAPH2_uc004eft.3_Missense_Mutation_p.K942T	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	942	Potential.|FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						CAACACGATAAGTTTGTGGAA	0.358												
PCDH19	57526	broad.mit.edu	37	X	99662916	99662916	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:99662916T>G	uc010nmz.2	-	1	2356	c.680A>C	c.(679-681)AAG>ACG	p.K227T	PCDH19_uc004efw.3_Missense_Mutation_p.K227T|PCDH19_uc004efx.3_Missense_Mutation_p.K227T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	227	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GTCGGTCACCTTGATACTAAG	0.617												
DRP2	1821	broad.mit.edu	37	X	100511132	100511132	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:100511132C>G	uc004egz.2	+	21	2641	c.2272C>G	c.(2272-2274)CAC>GAC	p.H758D	DRP2_uc011mrh.1_Missense_Mutation_p.H680D	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	758					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCTGCTGCGGCACTCCAGCCC	0.582												
BHLHB9	80823	broad.mit.edu	37	X	102004719	102004719	+	Missense_Mutation	SNP	C	C	T	rs149330911		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:102004719C>T	uc010nog.2	+	4	1367	c.796C>T	c.(796-798)CGC>TGC	p.R266C	BHLHB9_uc011mrq.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrr.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrs.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrt.1_Missense_Mutation_p.R266C|BHLHB9_uc004ejo.2_Missense_Mutation_p.R266C|BHLHB9_uc011mru.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrv.1_Missense_Mutation_p.R266C	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	266						cytoplasm|nucleus	binding			ovary(2)	2						AACAGCTTGCCGCCCTTCTAG	0.498												
GUCY2F	2986	broad.mit.edu	37	X	108718959	108718959	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:108718959C>A	uc004eod.3	-	2	483	c.207G>T	c.(205-207)AAG>AAT	p.K69N	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	69	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			lung(4)|breast(3)|central_nervous_system(1)	8						CAGGCAGGGCCTTTGAAAACA	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PAK3	5063	broad.mit.edu	37	X	110248880	110248880	+	Translation_Start_Site	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:110248880T>G	uc004eoy.1	+	1	455	c.-1013T>G	c.(-1015--1011)ATTTG>ATGTG		PAK3_uc010npt.1_Intron|PAK3_uc010npu.1_Intron			O75914	PAK3_HUMAN	SubName: Full=cDNA FLJ75088, highly similar to Homo sapiens p21 (CDKN1A)-activated kinase 2 (PAK2), mRNA;						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GAAGAGAAATTTGGCCCTTAT	0.443										TSP Lung(19;0.15)		
TRPC5	7224	broad.mit.edu	37	X	111155719	111155719	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:111155719C>G	uc004epl.1	-	3	1619	c.700G>C	c.(700-702)GAG>CAG	p.E234Q	TRPC5_uc004epm.1_Missense_Mutation_p.E234Q	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	234	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AACTCATTCTCCACCTTGCTG	0.557												
KLHL13	90293	broad.mit.edu	37	X	117054219	117054219	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:117054219A>G	uc004eql.2	-	3	417	c.355T>C	c.(355-357)TTC>CTC	p.F119L	KLHL13_uc004eqk.2_Missense_Mutation_p.F68L|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.F113L|KLHL13_uc011mtp.1_Missense_Mutation_p.F121L|KLHL13_uc004eqm.2_Missense_Mutation_p.F68L|KLHL13_uc011mtq.1_Missense_Mutation_p.F103L	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	119	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATAGCCTTGAAGTAATCACTA	0.378												
SLC25A5	292	broad.mit.edu	37	X	118604463	118604463	+	Silent	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:118604463A>G	uc004erh.3	+	3	842	c.726A>G	c.(724-726)TCA>TCG	p.S242S	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	242	Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	TGATGCAGTCAGGGCGCAAAG	0.493												
CUL4B	8450	broad.mit.edu	37	X	119669715	119669715	+	Silent	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:119669715T>C	uc004esw.2	-	18	2621	c.2184A>G	c.(2182-2184)GGA>GGG	p.G728G	CUL4B_uc010nqq.2_Silent_p.G429G|CUL4B_uc004esv.2_Silent_p.G710G	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	728					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						ACACACAGTGTCCTAGGGTTG	0.343												
ODZ1	10178	broad.mit.edu	37	X	123517645	123517645	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:123517645T>C	uc004euj.2	-	29	7179	c.7115A>G	c.(7114-7116)CAC>CGC	p.H2372R	ODZ1_uc011muj.1_Missense_Mutation_p.H2378R|ODZ1_uc010nqy.2_Missense_Mutation_p.H2379R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2372	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGCCCCAGGTGCACTAATTT	0.418												
ODZ1	10178	broad.mit.edu	37	X	123526074	123526074	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:123526074C>A	uc004euj.2	-	27	5559	c.5495G>T	c.(5494-5496)TGG>TTG	p.W1832L	ODZ1_uc011muj.1_Missense_Mutation_p.W1838L|ODZ1_uc010nqy.2_Missense_Mutation_p.W1839L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1832	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACAGGAGACCACAGAATGGG	0.393												
UTP14A	10813	broad.mit.edu	37	X	129055391	129055391	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129055391C>G	uc004euz.2	+	11	1204	c.1176C>G	c.(1174-1176)GAC>GAG	p.D392E	UTP14A_uc011mup.1_Missense_Mutation_p.D340E|UTP14A_uc011muq.1_Missense_Mutation_p.D338E|UTP14A_uc004eva.1_Missense_Mutation_p.D98E	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	392					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CCCAGGAGGACCCTGAGCAAC	0.507												
IGSF1	3547	broad.mit.edu	37	X	130410940	130410940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:130410940T>C	uc004ewd.2	-	14	2819	c.2581A>G	c.(2581-2583)AGC>GGC	p.S861G	IGSF1_uc004ewe.3_Missense_Mutation_p.S855G|IGSF1_uc004ewf.2_Missense_Mutation_p.S841G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	861	Extracellular (Potential).|Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACAGGGTCGCTGGGCTCAGAC	0.567												
FRMD7	90167	broad.mit.edu	37	X	131216453	131216453	+	Silent	SNP	C	C	T	rs145014972		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:131216453C>T	uc004ewn.2	-	9	1021	c.843G>A	c.(841-843)TCG>TCA	p.S281S	FRMD7_uc011muy.1_Silent_p.S266S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	281	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGGGCTCTTCCGAAAGCCTGA	0.483												
GPR112	139378	broad.mit.edu	37	X	135405357	135405357	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:135405357T>C	uc004ezu.1	+	5	782	c.491T>C	c.(490-492)CTC>CCC	p.L164P	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	164	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGGCACTTTCTCAAGAATGAG	0.453												
MAGEC1	9947	broad.mit.edu	37	X	140995628	140995628	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:140995628C>A	uc004fbt.2	+	4	2724	c.2438C>A	c.(2437-2439)CCT>CAT	p.P813H	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	813							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGTCCTGTGAGCTCC	0.547										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	148037692	148037692	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:148037692A>G	uc004fcp.2	+	11	2596	c.2117A>G	c.(2116-2118)AAG>AGG	p.K706R	AFF2_uc004fcq.2_Missense_Mutation_p.K696R|AFF2_uc004fcr.2_Missense_Mutation_p.K667R|AFF2_uc011mxb.1_Missense_Mutation_p.K671R|AFF2_uc004fcs.2_Missense_Mutation_p.K673R|AFF2_uc011mxc.1_Missense_Mutation_p.K347R	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	706					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTGCCAAAGTCTCGGGAA	0.488												
PRRG3	79057	broad.mit.edu	37	X	150869254	150869254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:150869254C>T	uc004few.1	+	4	835	c.445C>T	c.(445-447)CGA>TGA	p.R149*		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	149	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGCACCGAGAGGCAGC	0.672												
CNGA2	1260	broad.mit.edu	37	X	150912578	150912578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:150912578C>T	uc004fey.1	+	7	1827	c.1603C>T	c.(1603-1605)CGA>TGA	p.R535*		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	535	cAMP (By similarity).|Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGCAATCGACGCACAGC	0.498												
ATP2B3	492	broad.mit.edu	37	X	152814984	152814984	+	Silent	SNP	C	C	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:152814984C>T	uc004fht.1	+	9	1494	c.1368C>T	c.(1366-1368)CGC>CGT	p.R456R	ATP2B3_uc004fhs.1_Silent_p.R456R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	456	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGTGCGCCACCTGGATG	0.587												
DUSP9	1852	broad.mit.edu	37	X	152915040	152915040	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:152915040T>G	uc004fhx.3	+	3	931	c.727T>G	c.(727-729)TTC>GTC	p.F243V	DUSP9_uc004fhy.3_Missense_Mutation_p.F243V	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCAAACTTCTTCGAGAA	0.547												
HCFC1	3054	broad.mit.edu	37	X	153219666	153219666	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:153219666G>A	uc004fjp.2	-	17	4712	c.4184C>T	c.(4183-4185)GCG>GTG	p.A1395V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1395					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGGTGCCGCCGCCACCTC	0.677												
EMD	2010	broad.mit.edu	37	X	153609454	153609454	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:153609454G>A	uc004fkl.2	+	6	910	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	221	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCAGGATCGCCAGGTCCCG	0.577												
TTC12	54970	broad.mit.edu	37	11	113238943	113238944	+	RNA	DEL	AG	AG	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:113238943_113238944delAG	uc001pnw.2	+	22		c.2182_2183delAG				NM_017868		Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCAATTTGGAAGAGAGTCTGCT	0.495												
VPS13A	23230	broad.mit.edu	37	9	79955199	79955199	+	Splice_Site	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:79955199delG	uc004akr.2	+	49	7139	c.6879_splice	c.e49+1	p.Q2293_splice	VPS13A_uc004akp.3_Splice_Site_p.Q2293_splice|VPS13A_uc004akq.3_Splice_Site_p.Q2293_splice|VPS13A_uc004aks.2_Splice_Site_p.Q2254_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGACTATCAAGTGAGTTCATT	0.289												
COL16A1	1307	broad.mit.edu	37	1	32119202	32119203	+	Splice_Site	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:32119201_32119202T>TG	uc001btk.1	-	70	4977	c.4612_splice	c.e70+1	p.G1538_splice	COL16A1_uc001btj.1_Splice_Site_p.G1336_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1538	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTCCTACCTGGGGGGCCGGG	0.446												
TNNC1	7134	broad.mit.edu	37	3	52486501	52486502	+	Splice_Site	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52486500_52486501A>AT	uc003deb.3	-	2	81	c.55_splice	c.e2+1	p.E19_splice		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	19	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GATTCTCACCATTTTTCTGCTC	0.540												
DTNBP1	84062	broad.mit.edu	37	6	15638038	15638038	+	Splice_Site	DEL	A	A	-	rs140124163		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome			
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
PCNT	5116	broad.mit.edu	37	21	47858077	47858077	+	Splice_Site	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:47858076_47858076GA>G	uc002zji.4	+	41	9207	c.9100_splice	c.e41-1	p.K3034_splice	PCNT_uc002zjj.3_Splice_Site_p.K2837_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3034	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTTCTCCAAGAAAAAAATGG	0.388												
PRDM16	63976	broad.mit.edu	37	1	3328152	3328152	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:3328152delC	uc001akf.2	+	9	1471	c.1391delC	c.(1390-1392)ACCfs	p.T464fs	PRDM16_uc001akc.2_Frame_Shift_Del_p.T464fs|PRDM16_uc001akd.2_Frame_Shift_Del_p.T464fs|PRDM16_uc001ake.2_Frame_Shift_Del_p.T464fs|PRDM16_uc009vlh.2_Frame_Shift_Del_p.T165fs	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	464	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCCCTTGACCCCCAGCCCC	0.637			T	EVI1	MDS|AML							
COL16A1	1307	broad.mit.edu	37	1	32119201	32119202	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:32119201_32119202insG	uc001btk.1	-	70	4975_4976	c.4610_4611insC	c.(4609-4611)CCAfs	p.P1537fs	COL16A1_uc001bti.1_Frame_Shift_Ins_p.P151fs|COL16A1_uc001btj.1_Frame_Shift_Ins_p.P1335fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1537	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTCCTACCTGGGGGGCCGGG	0.446												
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:43772910delC	uc001ciu.2	+	5	817	c.738delC	c.(736-738)TGCfs	p.C246fs	TIE1_uc010okd.1_Frame_Shift_Del_p.C246fs|TIE1_uc010oke.1_Frame_Shift_Del_p.C201fs|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Frame_Shift_Del_p.C246fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	246	Extracellular (Potential).|EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632												
ATG4C	84938	broad.mit.edu	37	1	63284744	63284744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:63284744delA	uc001dat.2	+	5	625	c.463delA	c.(463-465)AAAfs	p.K155fs	ATG4C_uc001dau.2_Frame_Shift_Del_p.K155fs	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	155					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						CCACACTGTCAAAAAATTTAC	0.378												
CLCA4	22802	broad.mit.edu	37	1	87031503	87031504	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:87031503_87031504insA	uc009wcs.2	+	6	798_799	c.754_755insA	c.(754-756)GAAfs	p.E252fs	CLCA4_uc009wct.2_Frame_Shift_Ins_p.E15fs|CLCA4_uc009wcu.2_Frame_Shift_Ins_p.E72fs	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCAT	0.272												
PKN2	5586	broad.mit.edu	37	1	89206848	89206848	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:89206848delA	uc001dmn.2	+	2	568	c.226delA	c.(226-228)AAAfs	p.K76fs	PKN2_uc001dmm.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osp.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Frame_Shift_Del_p.K76fs	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	76	REM 1.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CACAACAGATAAAAAAAGTTT	0.308												
SLC6A17	388662	broad.mit.edu	37	1	110714812	110714812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:110714812delG	uc009wfq.2	+	3	878	c.417delG	c.(415-417)CTGfs	p.L139fs		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	139	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCCCCGCCTGGGGGGCATCG	0.632												
BCL9	607	broad.mit.edu	37	1	147087679	147087680	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:147087679_147087680delAC	uc001epq.2	+	7	1377_1378	c.637_638delAC	c.(637-639)ACAfs	p.T213fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.T139fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	213					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TAACAACAAGACAGAGAGAAGC	0.426			T	IGH@|IGL@	B-ALL							
IGSF9	57549	broad.mit.edu	37	1	159900128	159900128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:159900128delC	uc001fur.2	-	15	2113	c.1915delG	c.(1915-1917)GTAfs	p.V639fs	IGSF9_uc001fuq.2_Frame_Shift_Del_p.V623fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	639	Fibronectin type-III 2.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCAGGAGTACCCCCCGGGGT	0.672												
C1orf14	81626	broad.mit.edu	37	1	182908681	182908681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:182908681delA	uc001gpu.2	-	4	1063	c.778delT	c.(778-780)TATfs	p.Y260fs	C1orf14_uc001gpv.2_Frame_Shift_Del_p.Y141fs|C1orf14_uc010pnz.1_Frame_Shift_Del_p.Y118fs|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	332											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AGAAAGTCATAAAAAAACCTA	0.308												
CAMSAP1L1	23271	broad.mit.edu	37	1	200822407	200822407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:200822407delA	uc001gvl.2	+	14	3910	c.3640delA	c.(3640-3642)AAAfs	p.K1214fs	CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.K1203fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.K1187fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1214						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCTTAGGCGTAAAACTGAGGA	0.363												
LRRC27	80313	broad.mit.edu	37	10	134188696	134188696	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:134188696delT	uc010quw.1	+	11	1738	c.1543delT	c.(1543-1545)TTTfs	p.F515fs	LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Frame_Shift_Del_p.F515fs|LRRC27_uc001llj.2_Frame_Shift_Del_p.F453fs	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	515										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCAAAATACATTTTTTAACAC	0.493												
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:3681478delC	uc001lye.1	+	3	830	c.729delC	c.(727-729)ATCfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGTGCTGATCCCCCCCTTTG	0.607												
TUB	7275	broad.mit.edu	37	11	8118863	8118863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:8118863delC	uc001mga.2	+	7	925	c.776delC	c.(775-777)GCCfs	p.A259fs	TUB_uc010rbk.1_Frame_Shift_Del_p.A265fs|TUB_uc001mfy.2_Frame_Shift_Del_p.A314fs	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	259					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTGAGGCCGGCCCCCCAGGGT	0.597												
SOX6	55553	broad.mit.edu	37	11	16119182	16119184	+	In_Frame_Del	DEL	AGC	AGC	-	rs150961105		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:16119182_16119184delAGC	uc001mme.2	-	8	1021_1023	c.988_990delGCT	c.(988-990)GCTdel	p.A330del	SOX6_uc001mmd.2_In_Frame_Del_p.A320del|SOX6_uc001mmf.2_In_Frame_Del_p.A317del|SOX6_uc001mmg.2_In_Frame_Del_p.A317del	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	317	Poly-Ala.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TGAGTCCAGAAGCAGCAGCAGCT	0.458												
ROM1	6094	broad.mit.edu	37	11	62382265	62382265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:62382265delC	uc001ntv.2	+	3	1551	c.1010delC	c.(1009-1011)GCCfs	p.A337fs	EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	337	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGAGGAGGCCCCACCAGGA	0.582												
TTC12	54970	broad.mit.edu	37	11	113238943	113238944	+	RNA	DEL	AG	AG	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:113238943_113238944delAG	uc001pnw.2	+	22		c.2182_2183delAG				NM_017868		Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCAATTTGGAAGAGAGTCTGCT	0.495												
BCL9L	283149	broad.mit.edu	37	11	118769560	118769560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:118769560delG	uc001pug.2	-	8	5029	c.4064delC	c.(4063-4065)CCTfs	p.P1355fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.P1350fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1355	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCAGATTAGGGGGCTGAGC	0.622												
ATN1	1822	broad.mit.edu	37	12	7045189	7045189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7045189delC	uc001qrw.1	+	5	996	c.759delC	c.(757-759)CACfs	p.H253fs	ATN1_uc001qrx.1_Frame_Shift_Del_p.H253fs|ATN1_uc001qry.1_Frame_Shift_Del_p.H252fs	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	253					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GTAAGCAGCACCCCCCACCCA	0.617												
ABCC9	10060	broad.mit.edu	37	12	22068696	22068696	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:22068696delT	uc001rfi.1	-	5	742	c.722delA	c.(721-723)AAGfs	p.K241fs	ABCC9_uc001rfh.2_Frame_Shift_Del_p.K241fs|ABCC9_uc001rfj.1_Frame_Shift_Del_p.K241fs	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	241	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)	ATCAATAGGCTTTTTGTGAGC	0.373												
HDAC7	51564	broad.mit.edu	37	12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:48181527delG	uc010slo.1	-	21	2616	c.2421delC	c.(2419-2421)CCCfs	p.P807fs	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Frame_Shift_Del_p.P241fs|HDAC7_uc001rqj.3_Frame_Shift_Del_p.P770fs|HDAC7_uc001rqk.3_Frame_Shift_Del_p.P790fs|HDAC7_uc010slp.1_Frame_Shift_Del_p.P51fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	768	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622												
LRP1	4035	broad.mit.edu	37	12	57560723	57560723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:57560723delC	uc001snd.2	+	18	3274	c.2808delC	c.(2806-2808)TGCfs	p.C936fs	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	936	LDL-receptor class A 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGCACCTGCCCCCCCAACC	0.592												
FRY	10129	broad.mit.edu	37	13	32821607	32821607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:32821607delA	uc001utx.2	+	48	7472	c.6976delA	c.(6976-6978)AAAfs	p.K2326fs	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACCTGGGAAAACCCTGGA	0.408												
CDH24	64403	broad.mit.edu	37	14	23523785	23523785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23523785delC	uc001wil.2	-	5	974	c.714delG	c.(712-714)GGGfs	p.G238fs	CDH24_uc010akf.2_Frame_Shift_Del_p.G238fs|CDH24_uc001win.3_Frame_Shift_Del_p.G238fs	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	238	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGCCTGACAGCCCCCCCATGT	0.607											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INSM2	84684	broad.mit.edu	37	14	36005056	36005057	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:36005056_36005057insT	uc001wth.1	+	1	1809_1810	c.1598_1599insT	c.(1597-1599)ACTfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	533	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629												
KLHL28	54813	broad.mit.edu	37	14	45414534	45414534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:45414534delA	uc001wvq.2	-	2	844	c.598delT	c.(598-600)TATfs	p.Y200fs	KLHL28_uc001wvr.2_Frame_Shift_Del_p.Y200fs|KLHL28_uc001wvt.3_Frame_Shift_Del_p.Y200fs	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	200										ovary(1)	1						TCTAATGCATAAAAAACAGTC	0.368												
SYNE2	23224	broad.mit.edu	37	14	64655326	64655326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:64655326delA	uc001xgm.2	+	98	18001	c.17771delA	c.(17770-17772)GAAfs	p.E5924fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.E5924fs|SYNE2_uc010apy.2_Frame_Shift_Del_p.E2309fs|SYNE2_uc001xgn.2_Frame_Shift_Del_p.E886fs|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Frame_Shift_Del_p.E289fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5924	Spectrin 5.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTATTCAATGAAAAAAATAAA	0.388												
FAM181A	90050	broad.mit.edu	37	14	94395475	94395475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:94395475delC	uc001ybz.1	+	3	1337	c.1030delC	c.(1030-1032)CCCfs	p.P344fs	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Frame_Shift_Del_p.P282fs|FAM181A_uc001yca.1_Frame_Shift_Del_p.P282fs	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	344											0						GCCAGCCGTGCCCCCACCCAT	0.672												
SETD3	84193	broad.mit.edu	37	14	99871696	99871696	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:99871696delA	uc001ygc.2	-	10	1107	c.937delT	c.(937-939)TATfs	p.Y313fs		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	313	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGAGTGCCATAAAAAATGTAA	0.398												
TMCO5A	145942	broad.mit.edu	37	15	38228551	38228551	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:38228551delA	uc001zjw.2	+	2	130	c.27delA	c.(25-27)TCAfs	p.S9fs	TMCO5A_uc001zjv.1_Frame_Shift_Del_p.S9fs|TMCO5A_uc010bbc.1_Frame_Shift_Del_p.S9fs	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	9						integral to membrane				central_nervous_system(1)	1						TGGCTCAGTCAAAAAGAAACA	0.403												
BUB1B	701	broad.mit.edu	37	15	40477506	40477506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:40477506delC	uc001zkx.3	+	7	1104	c.892delC	c.(892-894)CCCfs	p.P298fs	BUB1B_uc010ucl.1_Frame_Shift_Del_p.P161fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATGGATAGCACCCCCCATGCC	0.478			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
PLA2G4E	123745	broad.mit.edu	37	15	42302336	42302338	+	In_Frame_Del	DEL	CCA	CCA	-	rs28736629		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:42302336_42302338delCCA	uc001zow.1	-	1	108_110	c.108_110delTGG	c.(106-111)GGTGGG>GGG	p.36_37GG>G		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	Error:Variant_position_missing_in_Q3MJ16_after_alignment					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACTGGCCCCCCCACCCCGGGCCT	0.591												
NARG2	79664	broad.mit.edu	37	15	60758863	60758863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:60758863delA	uc002agp.2	-	5	693	c.458delT	c.(457-459)TTGfs	p.L153fs	NARG2_uc002ago.2_Frame_Shift_Del_p.L16fs|NARG2_uc010bgk.2_Frame_Shift_Del_p.L153fs|NARG2_uc002agr.1_Frame_Shift_Del_p.L153fs	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	153						nucleus				ovary(1)|lung(1)	2						AGAATTCTGCAAAAACTTTAG	0.318												
ZNF319	57567	broad.mit.edu	37	16	58031628	58031628	+	Frame_Shift_Del	DEL	G	G	-	rs141462652		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:58031628delG	uc002emx.1	-	2	1165	c.542delC	c.(541-543)CCGfs	p.P181fs		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGAAGCGACGGGGCGGCTGT	0.632												
C16orf7	9605	broad.mit.edu	37	16	89783208	89783208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:89783208delG	uc002fom.1	-	3	323	c.198delC	c.(196-198)CCCfs	p.P66fs	C16orf7_uc002fol.1_5'UTR|uc002fon.1_RNA|uc002foo.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	66					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGGAGGTGTCGGGGGGCACAG	0.592												
GGT6	124975	broad.mit.edu	37	17	4461879	4461879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4461879delG	uc002fyd.3	-	4	973	c.913delC	c.(913-915)CAGfs	p.Q305fs	GGT6_uc010vsb.1_Frame_Shift_Del_p.Q157fs|GGT6_uc002fyc.3_Frame_Shift_Del_p.Q273fs|GGT6_uc010vsc.1_Frame_Shift_Del_p.Q311fs	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	305	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						AGGATGCCCTGGGGCACAGGT	0.672												
KIF1C	10749	broad.mit.edu	37	17	4927147	4927147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4927147delC	uc002gan.1	+	23	3339	c.3013delC	c.(3013-3015)CCCfs	p.P1005fs		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						TCCGCTCCAACCCCCTGAGGA	0.687												
RPL23A	6147	broad.mit.edu	37	17	27047808	27047810	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:27047808_27047810delAAG	uc002hci.2	+	2	133_135	c.109_111delAAG	c.(109-111)AAGdel	p.K39del	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	39					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					CAGCCACAAAAAGAAGAAGATCC	0.547											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SRCIN1	80725	broad.mit.edu	37	17	36707421	36707421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:36707421delG	uc002hqd.2	-	15	3157	c.2932delC	c.(2932-2934)CGAfs	p.R978fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.R850fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.R832fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	850	Pro-rich.			R -> K (in Ref. 6; AA sequence).	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						GGCTCCGTTCGGGGGGCTGCC	0.687												
NR1D1	9572	broad.mit.edu	37	17	38252308	38252309	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:38252308_38252309delTC	uc002htz.1	-	5	1262_1263	c.636_637delGA	c.(634-639)GAGAAGfs	p.E212fs	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	212_213					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					ATCCGCTGCTTCTCTCGTTTGG	0.564												
RNFT1	51136	broad.mit.edu	37	17	58033900	58033900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:58033900delA	uc002iya.2	-	7	1113	c.1020delT	c.(1018-1020)TTTfs	p.F340fs	RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_Frame_Shift_Del_p.F78fs	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	340	Helical; (Potential).					integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCAGATGCCCAAAAAATTCCA	0.323												
ENGASE	64772	broad.mit.edu	37	17	77073557	77073557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:77073557delT	uc002jwv.2	+	2	200	c.192delT	c.(190-192)AGTfs	p.S64fs	ENGASE_uc002jwu.1_Frame_Shift_Del_p.S64fs|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	64						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						AGGTGGTCAGTTTTTCCCCGG	0.493												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677												
MLL4	9757	broad.mit.edu	37	19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					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)			GGAGGCCCTTGGGGGGTGTCT	0.672												
KLK1	3816	broad.mit.edu	37	19	51323227	51323227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51323227delT	uc002ptk.1	-	4	600	c.561delA	c.(559-561)AAAfs	p.K187fs	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	187	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACGTGGGCTTTTTTGCACT	0.557												
ZIM3	114026	broad.mit.edu	37	19	57646555	57646555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:57646555delT	uc002qnz.1	-	5	1536	c.1150delA	c.(1150-1152)ATCfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	384	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGTATGGATTTTTTTATGT	0.388												
ITGA6	3655	broad.mit.edu	37	2	173368931	173368931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:173368931delA	uc002uhp.1	+	25	3430	c.3227delA	c.(3226-3228)GAAfs	p.E1076fs	ITGA6_uc010zdy.1_3'UTR|ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	1115	Cytoplasmic (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAACCTTGAAAAAAAACAG	0.408												
OSBPL6	114880	broad.mit.edu	37	2	179255915	179255915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:179255915delC	uc002ulx.2	+	22	2795	c.2417delC	c.(2416-2418)GCCfs	p.A806fs	OSBPL6_uc002uly.2_Frame_Shift_Del_p.A831fs|OSBPL6_uc010zfe.1_Frame_Shift_Del_p.A775fs|OSBPL6_uc002ulz.2_Frame_Shift_Del_p.A770fs|OSBPL6_uc002uma.2_Frame_Shift_Del_p.A810fs	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	806					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTGGTGTGGCCCCCTCTGCA	0.537												
ZDBF2	57683	broad.mit.edu	37	2	207175826	207175826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:207175826delA	uc002vbp.2	+	5	6824	c.6574delA	c.(6574-6576)AAAfs	p.K2192fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2192							nucleic acid binding|zinc ion binding			ovary(3)	3						AGGTTTTCCCAAAAAGGTTTA	0.338												
GPR55	9290	broad.mit.edu	37	2	231774722	231774722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:231774722delC	uc002vrg.2	-	2	1149	c.956delG	c.(955-957)GGCfs	p.G319fs	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Frame_Shift_Del_p.G319fs	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	319	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CTTCCGTTAGCCCCGGGAGAT	0.552												
NCL	4691	broad.mit.edu	37	2	232327984	232327986	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:232327984_232327986delGGA	uc002vru.2	-	2	201_203	c.60_62delTCC	c.(58-63)CCTCCA>CCA	p.20_21PP>P	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	20_21					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TACCTCCTTTGGAGGAGGAGCCA	0.399												
SUN5	140732	broad.mit.edu	37	20	31577498	31577498	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:31577498delT	uc002wyi.2	-	9	634	c.541delA	c.(541-543)ATGfs	p.M181fs		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	181	Potential.				spermatogenesis					skin(1)	1						TTCTGGGCCATTTTTTGCTGA	0.507												
PTGIS	5740	broad.mit.edu	37	20	48127617	48127617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:48127617delC	uc002xut.2	-	9	1360	c.1306delG	c.(1306-1308)GCGfs	p.A436fs	PTGIS_uc010zyi.1_Frame_Shift_Del_p.A297fs	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	436					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTGTGCCCCGCCCCCCAGGGC	0.547												
P2RX6	9127	broad.mit.edu	37	22	21377597	21377597	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:21377597delT	uc010gsu.1	+	7	672	c.672delT	c.(670-672)TATfs	p.Y224fs	P2RX6_uc002ztz.2_Frame_Shift_Del_p.Y198fs|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	224	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						ACCCCACCTATTTTAAGCACT	0.592												
MMP11	4320	broad.mit.edu	37	22	24124456	24124456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:24124456delC	uc002zxx.2	+	7	1141	c.1119delC	c.(1117-1119)GGCfs	p.G373fs	MMP11_uc002zxy.2_Intron|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	373	Hemopexin-like 2.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				cagtcctgggccccgcacccc	0.443												
NAGA	4668	broad.mit.edu	37	22	42458950	42458950	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:42458950delG	uc003bbx.2	-	8	975	c.838delC	c.(838-840)CTCfs	p.L280fs	NAGA_uc003bby.2_Frame_Shift_Del_p.L280fs|NAGA_uc003bbw.3_Frame_Shift_Del_p.L280fs	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	280					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						GACATCAAGAGGGGGGCTGCC	0.557												
SHANK3	85358	broad.mit.edu	37	22	51117521	51117521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:51117521delG	uc003bne.1	+	6	675	c.675delG	c.(673-675)CTGfs	p.L225fs		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	225										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACAGCGCCCTGGGGGGTGGGG	0.637												
DOCK3	1795	broad.mit.edu	37	3	51413261	51413261	+	Frame_Shift_Del	DEL	A	A	-	rs34788750		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:51413261delA	uc011bds.1	+	51	5518	c.5495delA	c.(5494-5496)GAAfs	p.E1832fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1832						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTGTGGCTGAAAAAGGTATT	0.557												
TLR9	54106	broad.mit.edu	37	3	52257017	52257017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52257017delC	uc003dda.1	-	2	1949	c.1315delG	c.(1315-1317)GAGfs	p.E439fs	TLR9_uc003ddb.2_Frame_Shift_Del_p.E536fs	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	439	LRR 14.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCATCTGCCTCCCCCATGGTG	0.657												
TNNC1	7134	broad.mit.edu	37	3	52486500	52486501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52486500_52486501insT	uc003deb.2	-	2	79_80	c.53_54insA	c.(52-54)AATfs	p.N18fs	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	18	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GATTCTCACCATTTTTCTGCTC	0.540												
MAGI1	9223	broad.mit.edu	37	3	65342221	65342221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:65342221delG	uc003dmn.2	-	23	4747	c.4221delC	c.(4219-4221)CCCfs	p.P1407fs	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1436					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTGCGCTCGGGGGAGCGTG	0.662												
MORC1	27136	broad.mit.edu	37	3	108773613	108773613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:108773613delC	uc003dxl.2	-	14	1379	c.1292delG	c.(1291-1293)GGAfs	p.G431fs	MORC1_uc011bhn.1_Frame_Shift_Del_p.G431fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	431					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CAAGTACTGTCCCATGACTTT	0.383												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
PPP2R3A	5523	broad.mit.edu	37	3	135721164	135721164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:135721164delA	uc003eqv.1	+	2	1389	c.824delA	c.(823-825)GAAfs	p.E275fs	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	275					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TCTAGCTCTGAAACTGTCTAT	0.338												
DZIP1L	199221	broad.mit.edu	37	3	137787113	137787113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:137787113delG	uc003erq.2	-	13	2075	c.1712delC	c.(1711-1713)CCAfs	p.P571fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	571						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						ACGAGTTGGTGGGGGTGGCTC	0.667												
IGSF10	285313	broad.mit.edu	37	3	151164080	151164081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:151164080_151164081insT	uc011bod.1	-	4	3688_3689	c.3688_3689insA	c.(3688-3690)AGCfs	p.S1230fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1230					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACAGCTGTGCTTTTTTGTAAA	0.381												
SI	6476	broad.mit.edu	37	3	164758862	164758862	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:164758862delA	uc003fei.2	-	18	2087	c.2025delT	c.(2023-2025)TTTfs	p.F675fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	675	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTCTGCCCAAAAAATGCAG	0.333										HNSCC(35;0.089)		
BCHE	590	broad.mit.edu	37	3	165491219	165491219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:165491219delT	uc003fem.3	-	4	1920	c.1760delA	c.(1759-1761)AATfs	p.N587fs	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	587					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTTAAATTGATTTTTCCAGTC	0.333												
ATP10D	57205	broad.mit.edu	37	4	47559698	47559698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:47559698delG	uc003gxk.1	+	12	2006	c.1842delG	c.(1840-1842)CTGfs	p.L614fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						ACCCTTCACTGGGGGGGTTGC	0.403												
KIAA1211	57482	broad.mit.edu	37	4	57181941	57181941	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:57181941delC	uc003hbk.2	+	8	2664	c.2273delC	c.(2272-2274)GCCfs	p.A758fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.A751fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.A668fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.A644fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	758										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACAGCCCCCCAGCCT	0.592												
WDFY3	23001	broad.mit.edu	37	4	85716121	85716121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:85716121delA	uc003hpd.2	-	20	3587	c.3179delT	c.(3178-3180)TTGfs	p.L1060fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1060						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACTGGGCAAAAAAAGACA	0.393												
DMP1	1758	broad.mit.edu	37	4	88584031	88584031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:88584031delC	uc003hqv.2	+	6	1205	c.1101delC	c.(1099-1101)AACfs	p.N367fs	DMP1_uc003hqw.2_Frame_Shift_Del_p.N351fs	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	367					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGAGATAACCCCGACCCCA	0.537												
ATOH1	474	broad.mit.edu	37	4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:94750382delG	uc003hta.1	+	1	305	c.305delG	c.(304-306)CGGfs	p.R102fs		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	102					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GTGGACGGCCGGGGGGAGCTG	0.692												
ADH1A	124	broad.mit.edu	37	4	100205902	100205903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:100205902_100205903insT	uc003hur.1	-	4	388_389	c.317_318insA	c.(316-318)AACfs	p.N106fs	uc003hum.1_Intron|ADH1A_uc011ceg.1_Frame_Shift_Ins_p.N106fs|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Frame_Shift_Ins_p.N106fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	106					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCTCTCCGGGTTTTTACAAAT	0.421												
NFKB1	4790	broad.mit.edu	37	4	103517339	103517339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:103517339delA	uc011ceq.1	+	14	1809	c.1342delA	c.(1342-1344)AAAfs	p.K448fs	NFKB1_uc011cep.1_Frame_Shift_Del_p.K449fs|NFKB1_uc011cer.1_Frame_Shift_Del_p.K268fs	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	448	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AGGTTGTGACAAAAGTGATGA	0.398												
GPM6A	2823	broad.mit.edu	37	4	176556153	176556155	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:176556153_176556155delCGG	uc003iuf.2	-	7	1542_1544	c.738_740delCCG	c.(736-741)TGCCGG>TGG	p.246_247CR>W	GPM6A_uc011ckj.1_In_Frame_Del_p.239_240CR>W|GPM6A_uc003iug.2_In_Frame_Del_p.246_247CR>W|GPM6A_uc003iuh.2_In_Frame_Del_p.235_236CR>W	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	246_247	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTCTGCATCCGGCAGGCGTCTT	0.429												
FAM151B	167555	broad.mit.edu	37	5	79837571	79837571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:79837571delA	uc003kgv.1	+	6	894	c.751delA	c.(751-753)AAAfs	p.K251fs	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	251											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTTTGACAAAAAACAAGT	0.308												
GPR98	84059	broad.mit.edu	37	5	89923350	89923350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:89923350delT	uc003kju.2	+	7	1091	c.995delT	c.(994-996)GTTfs	p.V332fs	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	332	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAACTGTTGTTTTTCCACCT	0.373												
KIF4B	285643	broad.mit.edu	37	5	154395578	154395580	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:154395578_154395580delAAC	uc010jih.1	+	1	2319_2321	c.2159_2161delAAC	c.(2158-2163)AAACAA>AAA	p.Q721del		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	721	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTCTCCAGAAACAACGAGAGGT	0.463												
DRD1	1812	broad.mit.edu	37	5	174869692	174869692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:174869692delG	uc003mcz.2	-	2	1356	c.411delC	c.(409-411)CCCfs	p.P137fs		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	137	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGGCTGCCTTGGGGGTCATCT	0.537												
RUFY1	80230	broad.mit.edu	37	5	179036402	179036404	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:179036402_179036404delTCT	uc003mka.1	+	18	2009_2011	c.2009_2011delTCT	c.(2008-2013)ATCTTC>ATC	p.F671del	RUFY1_uc003mkb.1_In_Frame_Del_p.F563del|RUFY1_uc003mkc.1_In_Frame_Del_p.F563del|RUFY1_uc003mkd.1_In_Frame_Del_p.F273del	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	671	FYVE-type.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCCACATCTTCTGCAACAC	0.650										HNSCC(44;0.11)		
MRPL2	51069	broad.mit.edu	37	6	43022057	43022057	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:43022057delG	uc003ots.1	-	7	996	c.873delC	c.(871-873)CCCfs	p.P291fs	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	291					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)		AACTCTTCATGGGGGGTAGTG	0.587												
MUT	4594	broad.mit.edu	37	6	49427150	49427151	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:49427150_49427151insA	uc003ozg.3	-	2	284_285	c.29_30insT	c.(28-30)TTAfs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	10					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAAAGTAAAAAAAGCTG	0.416												
MDN1	23195	broad.mit.edu	37	6	90417112	90417115	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:90417112_90417115delCTCT	uc003pnn.1	-	52	8095_8098	c.7979_7982delAGAG	c.(7978-7983)GAGAGTfs	p.E2660fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2660_2661					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTCAAAACACTCTCTCTTAGCTT	0.348												
ECT2L	345930	broad.mit.edu	37	6	139135710	139135710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:139135710delT	uc003qif.1	+	2	252	c.149delT	c.(148-150)ATTfs	p.I50fs	ECT2L_uc011edq.1_5'UTR	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	50					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TTATTCGCAATTTTTTTAAGA	0.338												
FBXO30	84085	broad.mit.edu	37	6	146126435	146126435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:146126435delT	uc003qla.2	-	2	1306	c.1107delA	c.(1105-1107)AAAfs	p.K369fs	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	369							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)		CTAAGTCTACTTTTTTCCAAC	0.393												
TULP4	56995	broad.mit.edu	37	6	158923753	158923753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:158923753delG	uc003qrf.2	+	13	4415	c.3058delG	c.(3058-3060)GGGfs	p.G1020fs	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1020					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)		GGGCGGGCCCGGGGGGGTGGT	0.721												
FNDC1	84624	broad.mit.edu	37	6	159660894	159660895	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:159660894_159660895insC	uc010kjv.2	+	14	4726_4727	c.4526_4527insC	c.(4525-4527)ATCfs	p.I1509fs	FNDC1_uc010kjw.1_Frame_Shift_Ins_p.I1394fs	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1509	Thr-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		accactcccatccccaccTGTC	0.252												
TAS2R38	5726	broad.mit.edu	37	7	141673000	141673001	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:141673000_141673001insA	uc003vwx.1	-	1	573_574	c.489_490insT	c.(487-492)TTTAGCfs	p.F163fs		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	163_164	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					TGAGGTCTGCTAAAAAAGCACC	0.426												
GPR124	25960	broad.mit.edu	37	8	37691605	37691605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:37691605delG	uc003xkj.2	+	11	1930	c.1567delG	c.(1567-1569)GGGfs	p.G523fs	GPR124_uc010lvy.2_Frame_Shift_Del_p.G523fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	523	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGAGCGCATTGGGGGGGCCGC	0.687												
VPS13A	23230	broad.mit.edu	37	9	79955199	79955199	+	Splice_Site	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:79955199delG	uc004akr.2	+	49	7139	c.6879_splice	c.e49+1	p.Q2293_splice	VPS13A_uc004akp.3_Splice_Site_p.Q2293_splice|VPS13A_uc004akq.3_Splice_Site_p.Q2293_splice|VPS13A_uc004aks.2_Splice_Site_p.Q2254_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGACTATCAAGTGAGTTCATT	0.289												
TLE1	7088	broad.mit.edu	37	9	84225192	84225192	+	Frame_Shift_Del	DEL	G	G	-	rs143065311		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:84225192delG	uc004aly.2	-	14	1715	c.1274delC	c.(1273-1275)CCTfs	p.P425fs	TLE1_uc004alz.2_Frame_Shift_Del_p.P435fs|TLE1_uc011lsr.1_Frame_Shift_Del_p.P410fs|TLE1_uc004ama.1_Frame_Shift_Del_p.P424fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	425	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TCTCATGTGAGGGGGAGGATC	0.448												
ZNF484	83744	broad.mit.edu	37	9	95609713	95609713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:95609713delT	uc004asu.1	-	5	1505	c.1356delA	c.(1354-1356)AAAfs	p.K452fs	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.K454fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.K416fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.K416fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	452	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGTTGTGATTTTTTAATAA	0.383												
C9orf114	51490	broad.mit.edu	37	9	131588302	131588302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:131588302delT	uc004bwd.2	-	7	664	c.638delA	c.(637-639)AAGfs	p.K213fs	C9orf114_uc004bwe.2_Frame_Shift_Del_p.K213fs|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	213											0						TGTTCCTACCTTTTTCATGCC	0.592												
SEC16A	9919	broad.mit.edu	37	9	139368727	139368727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139368727delG	uc004chx.2	-	3	3650	c.3341delC	c.(3340-3342)CCTfs	p.P1114fs	SEC16A_uc004chv.3_Frame_Shift_Del_p.P504fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.P1114fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.P1114fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.P1114fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	936	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGAGGCCGAGGGGGCAGCTG	0.637												
CFP	5199	broad.mit.edu	37	X	47489004	47489004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:47489004delC	uc004dig.3	-	2	272	c.146delG	c.(145-147)GGTfs	p.G49fs	CFP_uc004dih.2_Frame_Shift_Del_p.G49fs|CFP_uc004dii.1_5'UTR|CFP_uc010nhu.2_Frame_Shift_Del_p.G49fs	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	49					complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GCTGACACCACCCCCCAGGAG	0.612												
TMSB15B	286527	broad.mit.edu	37	X	103219168	103219169	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:103219168_103219169insA	uc010noz.2	+	2	187_188	c.73_74insA	c.(73-75)GAAfs	p.E25fs	TMSB15B_uc004elo.3_RNA|TMSB15B_uc004elq.3_RNA	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	thymosin beta15b	25					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TAATACTGAAGAAAAAAATACT	0.356												
BCORL1	63035	broad.mit.edu	37	X	129147663	129147664	+	Frame_Shift_Ins	INS	-	-	TCAG			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129147663_129147664insTCAG	uc004evb.1	+	4	1029_1030	c.915_916insTCAG	c.(913-918)CTTTCAfs	p.L305fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.L207fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	305_306	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgccccgctttcagtcccagt	0.248												
COL16A1	1307	broad.mit.edu	37	1	32119202	32119203	+	Splice_Site	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:32119201_32119202T>TG	uc001btk.1	-	70	4977	c.4612_splice	c.e70+1	p.G1538_splice	COL16A1_uc001btj.1_Splice_Site_p.G1336_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1538	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTCCTACCTGGGGGGCCGGG	0.446												
FGGY	55277	broad.mit.edu	37	1	59812017	59812018	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:59812016_59812017C>CG	uc009wac.3	+	3	623_624	c.411_412C>CG	c.(409-414)gtcgggfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Ins_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500												
CLCA4	22802	broad.mit.edu	37	1	87031504	87031505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:87031503_87031504G>GA	uc009wcs.3	+	5	798_799	c.754_755G>GA	c.(754-756)gaafs	p.E252fs	CLCA4_uc009wct.3_Frame_Shift_Ins_p.E15fs|CLCA4_uc009wcu.3_Frame_Shift_Ins_p.E72fs	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCAT	0.272												
ARHGAP29	9411	broad.mit.edu	37	1	94668131	94668131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:94668130_94668130CT>C	uc001dqj.4	-	10	1482	c.1113_1113AG>G	c.(1111-1113)aagfs	p.K371fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Frame_Shift_Del_p.K371fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	371					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAACCTTCGCTTTTTTTCTA	0.393												
PFKFB2	5208	broad.mit.edu	37	1	207241006	207241007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:207241005_207241006T>TG	uc001hfg.3	+	8	903_904	c.794_795T>TG	c.(793-795)ttgfs	p.L265fs	PFKFB2_uc010psc.2_Frame_Shift_Ins_p.L167fs|PFKFB2_uc001hfh.3_Frame_Shift_Ins_p.L265fs|PFKFB2_uc009xcc.3_Frame_Shift_Ins_p.L223fs|PFKFB2_uc010psd.2_Frame_Shift_Ins_p.L79fs	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	265	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.L265F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTCAATCTCTTGGGGAAGATTG	0.495												
C1orf124	83932	broad.mit.edu	37	1	231488894	231488895	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:231488893_231488894A>AT	uc001hur.3	+	4	1704_1705	c.1256_1257A>AT	c.(1255-1257)aatfs	p.N419fs	C1orf124_uc001hus.3_3'UTR|C1orf124_uc001hut.3_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	419					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396												
OR2W3	343171	broad.mit.edu	37	1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248059732_248059732AC>A	uc010pzb.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs	OR2W3_uc001idp.1_Frame_Shift_Del_p.T282fs	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACATTGTCACCCCCCTCCT	0.512												
ITSN2	50618	broad.mit.edu	37	2	24484599	24484599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:24484598_24484598GT>G	uc002rfe.2	-	20	2627	c.2369_2369AC>C	c.(2368-2370)accfs	p.T790fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.T763fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.T790fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	790	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding	p.T789fs*11(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTACGGTTTTTTCATC	0.328												
SLC20A1	6574	broad.mit.edu	37	2	113416441	113416442	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:113416440_113416441G>GA	uc002tib.3	+	6	1356_1357	c.817_818G>GA	c.(817-819)gaafs	p.E273fs	SLC20A1_uc002tic.1_Frame_Shift_Ins_p.E85fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	273					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CCCCTTAATGGAAAAAAAGAAT	0.411												
SCN3A	6328	broad.mit.edu	37	2	165997474	165997475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:165997473_165997474T>TG	uc002ucx.3	-	12	2198_2199	c.1706_1707A>CA	c.(1705-1707)ccafs	p.P569fs	SCN3A_uc002ucy.3_Frame_Shift_Ins_p.P569fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.P569fs|SCN3A_uc002uda.1_Frame_Shift_Ins_p.P438fs|SCN3A_uc002udb.1_Frame_Shift_Ins_p.P438fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	569						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TATTGCGTCTTGGGGAAAACAG	0.431												
ZNF142	7701	broad.mit.edu	37	2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:219508083_219508083TC>T	uc002vin.3	-	7	3592	c.3156_3156GA>A	c.(3154-3156)ggafs	p.G1052fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.G1013fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.G889fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.G889fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		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)		CCCCGCCACGTCCCCCCCTGC	0.602												
SETD2	29072	broad.mit.edu	37	3	47143010	47143011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:47143009_47143010T>TA	uc003cqv.3	-	8	5240_5241	c.5154_5155A>TA	c.(5152-5157)tttaccfs	p.F1718fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.F1651fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCAA	0.401			"""N, F, S, Mis"""		clear cell renal carcinoma							
SLC38A3	10991	broad.mit.edu	37	3	50251692	50251692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50251691_50251691AG>A	uc003cyn.4	+	1	200	c.59_59AG>A	c.(58-60)gagfs	p.E20fs	SLC38A3_uc011bdl.2_Frame_Shift_Del_p.E20fs|SLC38A3_uc011bdm.2_5'Flank	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	20					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAACACTCAGAGGGGCTGCTC	0.617												
TNNC1	7134	broad.mit.edu	37	3	52486501	52486502	+	Splice_Site	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52486500_52486501A>AT	uc003deb.3	-	2	81	c.55_splice	c.e2+1	p.E19_splice		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	19	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GATTCTCACCATTTTTCTGCTC	0.540												
IGSF10	285313	broad.mit.edu	37	3	151164081	151164082	+	Frame_Shift_Ins	INS	-	-	T	rs36002001		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:151164080_151164081C>CT	uc011bod.2	-	3	3688_3689	c.3688_3689G>AG	c.(3688-3690)agcfs	p.S1230fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1230					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACAGCTGTGCTTTTTTGTAAA	0.381												
ATP13A3	79572	broad.mit.edu	37	3	194167727	194167728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:194167726_194167727A>AT	uc003fty.4	-	12	1828_1829	c.1426_1427T>AT	c.(1426-1428)atcfs	p.I476fs	ATP13A3_uc003ftz.1_Frame_Shift_Ins_p.I182fs	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAAATACCGATTTTTTTCAGT	0.381												
KLF3	51274	broad.mit.edu	37	4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426												
ADH1A	124	broad.mit.edu	37	4	100205903	100205904	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:100205902_100205903G>GT	uc003hur.2	-	3	431_432	c.317_318C>AC	c.(316-318)aacfs	p.N106fs	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Frame_Shift_Ins_p.N106fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	106					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCTCTCCGGGTTTTTACAAAT	0.421												
CLGN	1047	broad.mit.edu	37	4	141313502	141313502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:141313501_141313501GT>G	uc011chi.2	-	13	1741	c.1523_1523AC>C	c.(1522-1524)accfs	p.T508fs	CLGN_uc003iii.3_Frame_Shift_Del_p.T508fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	508					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATATGTCGGTTTTTTTATA	0.328												
TBCA	6902	broad.mit.edu	37	5	77004142	77004142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:77004141_77004141CT>C	uc003kfh.1	-	1	189	c.85_85AG>G	c.(85-87)gagfs	p.E29fs	TBCA_uc003kfi.1_Frame_Shift_Del_p.E29fs	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284												
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140032592_140032593T>TGA	uc003lgq.3	+	4	377_378	c.267_268T>TGA	c.(265-270)attgagfs	p.I89fs	IK_uc011czk.1_Frame_Shift_Ins_p.I89fs|IK_uc021yen.1_Frame_Shift_Ins_p.I30fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	89					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAGAAATTGAGAGAGAGAG	0.465												
PPP2R2B	5521	broad.mit.edu	37	5	145969652	145969652	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:145969651_145969651GC>G	uc011dbv.2	-	10	1628	c.1365_1365GC>C	c.(1363-1365)ggcfs	p.G455fs	PPP2R2B_uc010jgm.3_Frame_Shift_Del_p.G386fs|PPP2R2B_uc003loe.3_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003log.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003lof.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003loi.4_Frame_Shift_Del_p.G400fs|PPP2R2B_uc003loh.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003lok.4_Frame_Shift_Del_p.G386fs|PPP2R2B_uc003loj.4_Frame_Shift_Del_p.G377fs|PPP2R2B_uc011dbu.2_Frame_Shift_Del_p.G403fs	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACAC	0.502												
HNRNPAB	3182	broad.mit.edu	37	5	177633781	177633781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:177633780_177633780TA>T	uc003miu.3	+	3	683	c.426_426TA>T	c.(424-426)cctfs	p.P142fs	HNRNPAB_uc003miv.3_Frame_Shift_Del_p.P142fs|HNRNPAB_uc003mix.3_Frame_Shift_Del_p.P142fs	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	141	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						TCATTGACCCTAAAAAGGCCA	0.537												
MUT	4594	broad.mit.edu	37	6	49427151	49427152	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:49427150_49427151T>TA	uc003ozg.4	-	1	294_295	c.29_30A>TA	c.(28-30)ttafs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	10					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAAAGTAAAAAAAGCTG	0.416												
SMPD2	6610	broad.mit.edu	37	6	109764540	109764540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:109764539_109764539AC>A	uc003pti.3	+	8	1193	c.799_799AC>A	c.(799-801)accfs	p.T267fs	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	267					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCACAGGGGCACCCCCCTCTC	0.542												
ARID1B	57492	broad.mit.edu	37	6	157405954	157405955	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:157405953_157405954C>CG	uc003qqp.3	+	4	2156_2157	c.2156_2157C>CG	c.(2155-2157)ccgfs	p.P719fs	ARID1B_uc003qqo.3_Frame_Shift_Ins_p.P732fs|ARID1B_uc003qqn.3_Frame_Shift_Ins_p.P719fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.P103fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCAT	0.599												
VPS41	27072	broad.mit.edu	37	7	38810820	38810820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:38810819_38810819AT>A	uc003tgy.3	-	13	1190	c.1164_1164AT>T	c.(1162-1164)aatfs	p.N388fs	VPS41_uc003tgz.3_Frame_Shift_Del_p.N363fs|VPS41_uc010kxn.3_Frame_Shift_Del_p.N299fs	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	388					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.N388Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTCTTTTAATATTTTTTTGGC	0.279												
RNF148	378925	broad.mit.edu	37	7	122341966	122341967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:122341965_122341966G>GA	uc003vkk.1	-	0	1056_1057	c.839_840C>TC	c.(838-840)ttcfs	p.F280fs	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron|RNF133_uc003vkj.1_5'Flank	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	280						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGCCTTATGGAAAAAATGTTT	0.401												
UBN2	254048	broad.mit.edu	37	7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:138968641_138968641AC>A	uc011kqr.2	+	14	2990	c.2990_2990AC>A	c.(2989-2991)cacfs	p.H997fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	997	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAAGGGTCCCACCCCCTGGTT	0.498												
TAS2R38	5726	broad.mit.edu	37	7	141673001	141673002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:141673000_141673001T>TA	uc003vwx.1	-	0	573_574	c.489_490A>TA	c.(487-492)tttagcfs	p.F163fs		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	163					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGAGGTCTGCTAAAAAAGCACC	0.426												
MOS	4342	broad.mit.edu	37	8	57025893	57025894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:57025892_57025893A>AT	uc011leb.2	-	0	649_650	c.649_650T>AT	c.(649-651)attfs	p.I217fs		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	217	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GAAGTCACTAATTTTACAGACA	0.535												
HAUS6	54801	broad.mit.edu	37	9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-	rs34558496		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATGGATCACTTTTTTTAGC	0.373												
TEX10	54881	broad.mit.edu	37	9	103066108	103066109	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:103066107_103066108A>AC	uc004bas.3	-	13	2697_2698	c.2482_2483T>GT	c.(2482-2484)gtcfs	p.V828fs	TEX10_uc011lvf.2_Frame_Shift_Ins_p.V667fs|TEX10_uc011lvg.2_Intron	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	828						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAGACACAGACCCCCCACAGC	0.545												
SORCS1	114815	broad.mit.edu	37	10	108536340	108536340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:108536339_108536339GA>G	uc001kyl.3	-	3	1020	c.838_838TC>C	c.(838-840)cacfs	p.H280fs	SORCS1_uc021pxw.1_Frame_Shift_Del_p.H280fs|SORCS1_uc009xxs.3_Frame_Shift_Del_p.H280fs|SORCS1_uc001kym.3_Frame_Shift_Del_p.H280fs|SORCS1_uc001kyn.2_Frame_Shift_Del_p.H280fs|SORCS1_uc001kyo.3_Frame_Shift_Del_p.H280fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	280						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTTGGGGTGAAAAAGCAAG	0.438												
C10orf137	26098	broad.mit.edu	37	10	127434314	127434314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:127434313_127434313GA>G	uc001liq.1	+	18	2921	c.2628_2628GA>G	c.(2626-2628)tggfs	p.W876fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.W842fs|C10orf137_uc001lip.1_Frame_Shift_Del_p.W580fs|C10orf137_uc001lio.1_Frame_Shift_Del_p.W842fs|C10orf137_uc001lis.1_Frame_Shift_Del_p.W202fs	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	876					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.W842*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGTGGAAAAAAAGCT	0.408												
KCNA4	3739	broad.mit.edu	37	11	30032940	30032940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:30032939_30032939AC>A	uc021qfi.1	-	0	1287	c.1287_1287GT>T	c.(1285-1287)ggtfs	p.G429fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.G429fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	429						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACCATTGCCACCCCCCTGTT	0.498												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
NFRKB	4798	broad.mit.edu	37	11	129752496	129752497	+	Frame_Shift_Ins	INS	-	-	T	rs149369172		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:129752495_129752496C>CT	uc001qfg.3	-	7	1128_1129	c.1007_1008G>AG	c.(1006-1008)aagfs	p.K336fs	NFRKB_uc001qfi.3_Frame_Shift_Ins_p.K311fs|NFRKB_uc001qfh.3_Frame_Shift_Ins_p.K334fs|NFRKB_uc010sbw.1_Frame_Shift_Ins_p.K323fs	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	311					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTTCCTTAACCTTTTTTTTAAG	0.441												
PZP	5858	broad.mit.edu	37	12	9321561	9321565	+	Frame_Shift_Del	DEL	ATCCC	ATCCC	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:9321560_9321564AATCCC>A	uc001qvl.3	-	16	2037_2041	c.2008_2012GGGATT>T	c.(2008-2013)ggattgfs	p.G670fs	PZP_uc009zgl.3_Frame_Shift_Del_p.G539fs|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Frame_Shift_Del_p.G2fs	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAACACCTTCAATCCCATCCCCTGG	0.371												
IAPP	3375	broad.mit.edu	37	12	21531329	21531330	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:21531328_21531329A>AAG	uc001rev.3	+	2	390_391	c.238_239A>AAG	c.(238-240)aagfs	p.K80fs	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	80					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	AGAGGTTTTAAAGAGAGAGCCA	0.371												
BEST3	144453	broad.mit.edu	37	12	70049362	70049363	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70049361_70049362T>TG	uc001svg.3	-	9	1559_1560	c.1332_1333A>CA	c.(1330-1335)cccaggfs	p.P444fs	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594												
TCHP	84260	broad.mit.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478												
RNF6	6049	broad.mit.edu	37	13	26788241	26788242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:26788240_26788241T>TA	uc001uqo.3	-	4	2123_2124	c.1778_1779A>TA	c.(1777-1779)ttafs	p.L593fs	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Frame_Shift_Ins_p.L593fs|RNF6_uc001uqq.3_Frame_Shift_Ins_p.L593fs|RNF6_uc010tdk.2_Frame_Shift_Ins_p.L237fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406												
PCDH8	5100	broad.mit.edu	37	13	53422549	53422549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:53422548_53422548GC>G	uc001vhi.3	-	0	228	c.24_24GC>C	c.(22-24)ggcfs	p.G8fs	PCDH8_uc001vhj.3_Frame_Shift_Del_p.G8fs	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	8					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G8C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCAGGGGCTGCCCCAACGCC	0.597												
PCDH17	27253	broad.mit.edu	37	13	58208750	58208750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:58208749_58208749AG>A	uc001vhq.1	+	0	2961	c.2069_2069AG>A	c.(2068-2070)gagfs	p.E690fs	PCDH17_uc010aec.1_Frame_Shift_Del_p.E690fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	690	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCCTTCCCGAGGGGGTACCA	0.632												
TMCO3	55002	broad.mit.edu	37	13	114201628	114201629	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:114201627_114201628T>TC	uc001vtu.4	+	10	2064_2065	c.1703_1704T>TC	c.(1702-1704)ttcfs	p.F568fs		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	568						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTCCACGTGTTCCCCACGTTTG	0.574												
INSM2	84684	broad.mit.edu	37	14	36005057	36005058	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:36005056_36005057C>CT	uc001wth.1	+	0	1809_1810	c.1598_1599C>CT	c.(1597-1599)actfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629												
LTBP2	4053	broad.mit.edu	37	14	75022210	75022211	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:75022209_75022210A>AG	uc001xqa.3	-	3	1404_1405	c.1017_1018T>CT	c.(1015-1020)ccctggfs	p.P339fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	339					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCTTACCCCAGGGGGATGAGG	0.619												
TP53BP1	7158	broad.mit.edu	37	15	43748661	43748661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:43748660_43748660CT>C	uc001zrs.3	-	11	2279	c.2131_2131AG>G	c.(2131-2133)gaafs	p.E711fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.E711fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.E716fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	711					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGAGCATTCTTTTTTTGGC	0.403								Other conserved DNA damage response genes				
RNF111	54778	broad.mit.edu	37	15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59376342_59376342GC>G	uc002afv.3	+	8	2591	c.2312_2312GC>G	c.(2311-2313)cgcfs	p.R771fs	RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R771C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCACATGAACGCCCCCCACCC	0.443												
CHRNA5	1138	broad.mit.edu	37	15	78882366	78882366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:78882365_78882365AT>A	uc002bdy.3	+	4	832	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	211					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						GACAAGAGAGATTTTTTTGAT	0.403												
ITGAX	3687	broad.mit.edu	37	16	31374335	31374335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:31374334_31374334GC>G	uc002ebt.3	+	12	1505	c.1438_1438GC>G	c.(1438-1440)gccfs	p.A480fs	ITGAX_uc002ebu.1_Frame_Shift_Del_p.A480fs|ITGAX_uc010vfk.1_Frame_Shift_Del_p.A130fs	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	480				A -> P (in Ref. 2; AAA51620).	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTCATCGGGGCCCCCCATTA	0.672												
CNTROB	116840	broad.mit.edu	37	17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.550												
TMEM92	162461	broad.mit.edu	37	17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48356597_48356597AC>A	uc002iqn.2	+	5	518	c.408_408AC>A	c.(406-408)ccafs	p.P136fs	TMEM92_uc021tzz.1_Frame_Shift_Del_p.P136fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	136	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCACAGAGCCACCCCCTCCCT	0.597												
UNK	85451	broad.mit.edu	37	17	73814802	73814803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73814801_73814802A>AC	uc002jpm.3	+	11	1678_1679	c.1678_1679A>AC	c.(1678-1680)accfs	p.T560fs	UNK_uc021udd.1_Frame_Shift_Ins_p.T484fs	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	484							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGCAGCTACCCCCCCTAGC	0.614												
TGIF1	7050	broad.mit.edu	37	18	3457752	3457753	+	Frame_Shift_Del	DEL	CT	CT	-	rs145648169		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:3457751_3457752CCT>C	uc002klz.3	+	2	1406_1407	c.1019_1020CCT>C	c.(1018-1020)accfs	p.T340fs	TGIF1_uc002klu.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002klv.3_Frame_Shift_Del_p.T225fs|TGIF1_uc002klx.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002klw.3_Frame_Shift_Del_p.T211fs|TGIF1_uc002kly.3_Frame_Shift_Del_p.T211fs|TGIF1_uc002kma.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002kmb.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002kmc.3_Frame_Shift_Del_p.T191fs	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	340					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TTCACAGACACCTCTCTCATGT	0.495												
MYO5B	4645	broad.mit.edu	37	18	47480800	47480801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:47480799_47480800T>TG	uc002leb.2	-	12	1839_1840	c.1551_1552A>CA	c.(1549-1554)cccaaafs	p.P517fs	MYO5B_uc021ukb.1_Frame_Shift_Ins_p.P516fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	517	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTTCCTTTGGGGACCTGCA	0.574												
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-	rs143745112	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACCAGAGGAGACCCCCCCAGC	0.667												
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11618820_11618820TG>T	uc002msb.3	-	4	916	c.782_782CA>A	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GATGTGGGGCTGGGGGGGATC	0.582												
ZNF506	440515	broad.mit.edu	37	19	19916883	19916883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:19916882_19916882GT>G	uc010eci.2	-	2	332	c.184_184AC>C	c.(184-186)cctfs	p.P62fs	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Intron|ZNF506_uc010ecj.2_Non-coding_Transcript	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATAGTTAAAGGTTTTTTTCCT	0.388												
PLEKHG2	64857	broad.mit.edu	37	19	39913906	39913907	+	Frame_Shift_Ins	INS	-	-	T	rs146458335		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39913905_39913906A>AT	uc010xuz.2	+	17	2536_2537	c.2211_2212A>AT	c.(2209-2214)gaagggfs	p.E737fs	PLEKHG2_uc010xuy.2_Frame_Shift_Ins_p.E678fs|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Frame_Shift_Ins_p.E515fs	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	737					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGATGAAGAAGGGGTATCATT	0.574												
ZNF543	125919	broad.mit.edu	37	19	57839258	57839258	+	Frame_Shift_Del	DEL	G	G	-	rs145613506	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:57839257_57839257CG>C	uc002qoi.2	+	3	784	c.427_427CG>C	c.(427-429)cggfs	p.R143fs		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R143L(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCCCCCAGCGGGGGAAGCT	0.468												
PCNT	5116	broad.mit.edu	37	21	47858077	47858077	+	Splice_Site	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:47858076_47858076GA>G	uc002zji.4	+	41	9207	c.9100_splice	c.e41-1	p.K3034_splice	PCNT_uc002zjj.3_Splice_Site_p.K2837_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3034	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTTCTCCAAGAAAAAAATGG	0.388												
POLA1	5422	broad.mit.edu	37	X	24830853	24830854	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24830852_24830853G>GA	uc004dbl.3	+	28	3165_3166	c.3150_3151G>GA	c.(3148-3153)ctgaaafs	p.L1050fs		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1050	Poly-Leu.				DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGCTACTGCTGAAAAAAAAGAA	0.371												
USP9X	8239	broad.mit.edu	37	X	41089035	41089036	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:41089034_41089035T>TA	uc004dfb.3	+	42	8066_8067	c.7433_7434T>TA	c.(7432-7434)gtafs	p.V2478fs	USP9X_uc004dfc.3_Splice_Site_p.E2477_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2478					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAGAGGAGGTAAAAAAAGCCA	0.371												
ZNF711	7552	broad.mit.edu	37	X	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:84526620_84526620TA>T	uc004eeq.3	+	9	3096	c.2210_2210TA>T	c.(2209-2211)ctafs	p.L737fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	691					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAAAATGAGCTAAAAAAACAT	0.363												
TMSB15B	286527	broad.mit.edu	37	X	103219169	103219170	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:103219168_103219169G>GA	uc010noz.3	+	1	793_794	c.73_74G>GA	c.(73-75)gaafs	p.E25fs	TMSB15B_uc004elo.4_Non-coding_Transcript|TMSB15B_uc004elq.4_Non-coding_Transcript	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15B (TMSB15B), mRNA.	25					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TAATACTGAAGAAAAAAATACT	0.356												
BCORL1	63035	broad.mit.edu	37	X	129147664	129147665	+	Frame_Shift_Ins	INS	-	-	TCAG			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129147663_129147664T>TTCAG	uc022cdu.1	+	2	959_960	c.915_916T>TTCAG	c.(913-918)ctttcafs	p.L305fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.L207fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	305	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P304Q(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ctgccccgctttcagtcccagt	0.639