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
PLCH2	9651	broad.mit.edu	37	1	2428315	2428315	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:2428315A>G	uc001aji.1	+	15	2256	c.1982A>G	c.(1981-1983)CAG>CGG	p.Q661R	PLCH2_uc010nyz.1_Missense_Mutation_p.Q449R|PLCH2_uc009vle.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajj.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajk.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	661	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AAGGCCCACCAGATTCTGCAG	0.647												
CAMTA1	23261	broad.mit.edu	37	1	7796536	7796536	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:7796536A>C	uc001aoi.2	+	13	3406	c.3199A>C	c.(3199-3201)ACC>CCC	p.T1067P	CAMTA1_uc010nzv.1_Missense_Mutation_p.T154P|CAMTA1_uc001aok.3_Missense_Mutation_p.T110P|CAMTA1_uc001aoj.2_Missense_Mutation_p.T23P	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1067	ANK 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGCGGAATGACCCTACTCCA	0.592												
VPS13D	55187	broad.mit.edu	37	1	12336689	12336689	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:12336689A>C	uc001atv.2	+	19	3185	c.3044A>C	c.(3043-3045)GAT>GCT	p.D1015A	VPS13D_uc001atw.2_Missense_Mutation_p.D1015A|VPS13D_uc001atx.2_Missense_Mutation_p.D203A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1015					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATGGTGCTGATTTTGACCTT	0.478											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRDM2	7799	broad.mit.edu	37	1	14106040	14106040	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:14106040G>C	uc001avi.2	+	8	2606	c.1750G>C	c.(1750-1752)GAT>CAT	p.D584H	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.D584H|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.D341H|PRDM2_uc001avk.2_Missense_Mutation_p.D383H|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	584						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAGTAACTGTGATGTGATTGA	0.333												
SPEN	23013	broad.mit.edu	37	1	16235934	16235934	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16235934A>C	uc001axk.1	+	4	1204	c.1000A>C	c.(1000-1002)AGT>CGT	p.S334R	SPEN_uc010obp.1_Missense_Mutation_p.S293R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	334	By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCCGTAAAAGTTTTGGCAT	0.453												
SPEN	23013	broad.mit.edu	37	1	16255028	16255028	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16255028A>T	uc001axk.1	+	11	2497	c.2293A>T	c.(2293-2295)AGC>TGC	p.S765C	SPEN_uc010obp.1_Missense_Mutation_p.S724C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	765	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGAGTGGAAGCTGTAGCTC	0.502												
SPEN	23013	broad.mit.edu	37	1	16256649	16256649	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16256649A>T	uc001axk.1	+	11	4118	c.3914A>T	c.(3913-3915)GAG>GTG	p.E1305V	SPEN_uc010obp.1_Missense_Mutation_p.E1264V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1305					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCAGGGAAGAGTCTTTAAAA	0.388												
EPHA2	1969	broad.mit.edu	37	1	16458611	16458611	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16458611A>C	uc001aya.1	-	13	2410	c.2273T>G	c.(2272-2274)TTT>TGT	p.F758C		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	758	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGACAGGCCAAAGTCAGACAC	0.607												
EPHA2	1969	broad.mit.edu	37	1	16464926	16464926	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16464926C>T	uc001aya.1	-	4	961	c.824_splice	c.e4-1	p.A275_splice	EPHA2_uc010oca.1_Splice_Site_p.A275_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCGAGCAGGCTGGTGGACAC	0.582												
ATP13A2	23400	broad.mit.edu	37	1	17316763	17316763	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:17316763C>T	uc001baa.2	-	21	2461	c.2271G>A	c.(2269-2271)GCG>GCA	p.A757A	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Silent_p.A752A|ATP13A2_uc001bac.2_Silent_p.A752A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	757	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACAGTCACCGCTGTCTGCA	0.597												
TAS1R2	80834	broad.mit.edu	37	1	19166828	19166828	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:19166828T>C	uc001bba.1	-	6	1786	c.1785A>G	c.(1783-1785)ATA>ATG	p.I595M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	595	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGAGCGAACTATGGGTGTCT	0.637												
MRTO4	51154	broad.mit.edu	37	1	19585179	19585179	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:19585179T>G	uc001bbs.2	+	8	830	c.575T>G	c.(574-576)CTT>CGT	p.L192R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	192					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAGAAGCTTTTTGGGTAT	0.498												
EIF4G3	8672	broad.mit.edu	37	1	21137275	21137275	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:21137275A>C	uc001bec.2	-	31	4788	c.4532T>G	c.(4531-4533)CTT>CGT	p.L1511R	EIF4G3_uc010odi.1_Missense_Mutation_p.L1115R|EIF4G3_uc010odj.1_Missense_Mutation_p.L1510R|EIF4G3_uc009vpz.2_Missense_Mutation_p.L1231R|EIF4G3_uc001bed.2_Missense_Mutation_p.L1511R|EIF4G3_uc001bef.2_Missense_Mutation_p.L1547R|EIF4G3_uc001bee.2_Missense_Mutation_p.L1517R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1511	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TAGTGCATAAAGTGCTTGCAG	0.413												
HSPG2	3339	broad.mit.edu	37	1	22181917	22181917	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:22181917T>C	uc001bfj.2	-	47	5917	c.5877A>G	c.(5875-5877)CAA>CAG	p.Q1959Q	HSPG2_uc009vqd.2_Silent_p.Q1960Q	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1959	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGGCTCACTTGGACTCTGG	0.682												
ZBTB40	9923	broad.mit.edu	37	1	22816605	22816605	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:22816605A>C	uc001bft.2	+	3	675	c.164A>C	c.(163-165)AAC>ACC	p.N55T	ZBTB40_uc001bfu.2_Missense_Mutation_p.N55T|ZBTB40_uc009vqi.1_Missense_Mutation_p.N55T	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	55	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTGCTGGATAACACAGATACC	0.517												
TCEB3	6924	broad.mit.edu	37	1	24083479	24083479	+	Silent	SNP	T	T	C	rs140332205	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:24083479T>C	uc001bho.2	+	10	2259	c.2199T>C	c.(2197-2199)CAT>CAC	p.H733H		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	733					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)		GAAGCAGCCATGCTTCCGCCA	0.587												
SRRM1	10250	broad.mit.edu	37	1	24975417	24975417	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:24975417T>G	uc001bjm.2	+	4	526	c.302T>G	c.(301-303)TTT>TGT	p.F101C	SRRM1_uc010oel.1_Missense_Mutation_p.F101C|SRRM1_uc009vrh.1_Missense_Mutation_p.F62C|SRRM1_uc009vri.1_Missense_Mutation_p.F18C|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	101	PWI.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|Necessary for DNA and RNA-binding.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCTCGAGAATTTATGGGAGAA	0.408												
EXTL1	2134	broad.mit.edu	37	1	26349405	26349405	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:26349405A>G	uc001blf.2	+	1	1135	c.268A>G	c.(268-270)AAG>GAG	p.K90E		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	90	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGATACCTCAAAGTGCAGGGG	0.557												
ARID1A	8289	broad.mit.edu	37	1	27106463	27106463	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:27106463A>C	uc001bmv.1	+	20	6447	c.6074A>C	c.(6073-6075)AAG>ACG	p.K2025T	ARID1A_uc001bmu.1_Missense_Mutation_p.K1808T|ARID1A_uc001bmx.1_Missense_Mutation_p.K871T|ARID1A_uc009vsm.1_Missense_Mutation_p.K353T|ARID1A_uc009vsn.1_Missense_Mutation_p.K267T	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2025					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGAACGGAAGCAGGCACCA	0.547			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
PPP1R8	5511	broad.mit.edu	37	1	28176805	28176805	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:28176805G>A	uc001bov.1	+	7	958	c.904G>A	c.(904-906)GAC>AAC	p.D302N	PPP1R8_uc001bow.1_Missense_Mutation_p.D160N|PPP1R8_uc001box.1_Missense_Mutation_p.D78N|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	302					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGATGTGGACTTGACTCC	0.532												
PHACTR4	65979	broad.mit.edu	37	1	28818272	28818272	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:28818272T>G	uc001bpw.2	+	12	2271	c.1989T>G	c.(1987-1989)CCT>CCG	p.P663P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.P647P|PHACTR4_uc001bpy.2_Silent_p.P673P|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	663							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACAAACCTTGGACCAAAC	0.388												
YTHDF2	51441	broad.mit.edu	37	1	29069077	29069077	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:29069077T>G	uc001brc.2	+	4	792	c.295T>G	c.(295-297)TTC>GTC	p.F99V	YTHDF2_uc001brd.2_Missense_Mutation_p.F96V|YTHDF2_uc010ofx.1_Missense_Mutation_p.F49V|YTHDF2_uc001bre.2_Missense_Mutation_p.F49V	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	99					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCCCCACTTCCTACCAGA	0.502												
CSMD2	114784	broad.mit.edu	37	1	34035042	34035042	+	Missense_Mutation	SNP	A	A	G	rs147330232		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:34035042A>G	uc001bxn.1	-	53	8098	c.8069T>C	c.(8068-8070)CTG>CCG	p.L2690P	CSMD2_uc001bxm.1_Missense_Mutation_p.L2688P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2690	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGCCCACCAGTGTGTATCC	0.602												
CSMD2	114784	broad.mit.edu	37	1	34046405	34046405	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:34046405A>C	uc001bxn.1	-	49	7370	c.7341T>G	c.(7339-7341)CGT>CGG	p.R2447R	CSMD2_uc001bxm.1_Silent_p.R2445R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2447	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATGACCAACGCAGGTACA	0.517												
GRIK3	2899	broad.mit.edu	37	1	37282714	37282714	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:37282714T>A	uc001caz.2	-	13	2173	c.2038A>T	c.(2038-2040)ACC>TCC	p.T680S	GRIK3_uc001cba.1_Missense_Mutation_p.T680S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	680	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCGATTTTGGTTTGCTTGGCC	0.557												
ZNF642	339559	broad.mit.edu	37	1	40947493	40947493	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:40947493A>G	uc001cfo.2	+	3	480	c.186A>G	c.(184-186)GAA>GAG	p.E62E	ZNF642_uc009vwb.2_Silent_p.E62E|ZNF642_uc010ojk.1_Silent_p.E62E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TAGAGGATGAAGTGACCCCTG	0.473												
KIAA0467	23334	broad.mit.edu	37	1	43880837	43880837	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:43880837G>T	uc009vws.1	+	5	667	c.583G>T	c.(583-585)GAT>TAT	p.D195Y				Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	195						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCTTTGAGGATAAGGTGGC	0.552											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2C	11004	broad.mit.edu	37	1	45232771	45232771	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:45232771G>C	uc001cmg.3	+	21	2213	c.2098G>C	c.(2098-2100)GTC>CTC	p.V700L	KIF2C_uc010olb.1_Missense_Mutation_p.V659L|KIF2C_uc010olc.1_Missense_Mutation_p.V587L|KIF2C_uc001cmh.3_Missense_Mutation_p.V646L	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	700					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCTTCCAGATGTCATCAAGGC	0.542												
LRRC41	10489	broad.mit.edu	37	1	46751978	46751978	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:46751978T>A	uc001cpn.2	-	4	595	c.551A>T	c.(550-552)AAC>ATC	p.N184I	LRRC41_uc010omb.1_Missense_Mutation_p.N184I|LRRC41_uc001cpo.1_Missense_Mutation_p.N184I	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	184										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AACCCTGCGGTTGGGCTCAGC	0.607												
NRD1	4898	broad.mit.edu	37	1	52277666	52277666	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:52277666T>G	uc001ctc.3	-	17	2305	c.1983A>C	c.(1981-1983)GAA>GAC	p.E661D	NRD1_uc009vzb.2_Missense_Mutation_p.E356D|NRD1_uc001ctd.3_Missense_Mutation_p.E593D|NRD1_uc001cte.2_Missense_Mutation_p.E529D|NRD1_uc001ctf.2_Missense_Mutation_p.E593D|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	592					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						ACCTCCTTACTTCTGGCTTGT	0.403												
ROR1	4919	broad.mit.edu	37	1	64608148	64608148	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:64608148C>T	uc001dbj.2	+	7	1388	c.989C>T	c.(988-990)TCA>TTA	p.S330L	ROR1_uc001dbi.3_Missense_Mutation_p.S330L|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	330	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						GTGACCAAATCAGGGCGCCAG	0.507												
JAK1	3716	broad.mit.edu	37	1	65313281	65313281	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:65313281A>C	uc001dbu.1	-	13	2082	c.1833T>G	c.(1831-1833)ACT>ACG	p.T611T	JAK1_uc009wam.1_Silent_p.T599T|JAK1_uc009wal.1_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	611	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTCTTCAGAAGTTCCTTCGT	0.512			Mis		ALL							
SGIP1	84251	broad.mit.edu	37	1	67147606	67147606	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:67147606A>C	uc001dcr.2	+	15	1086	c.869A>C	c.(868-870)GAC>GCC	p.D290A	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.D57A	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	290	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						TCCATCAATGACTTGGACAGC	0.383												
SFRS11	9295	broad.mit.edu	37	1	70700393	70700393	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:70700393A>G	uc001des.2	+	5	586	c.462A>G	c.(460-462)CCA>CCG	p.P154P	SFRS11_uc001det.2_Silent_p.P154P|SFRS11_uc001deu.2_Silent_p.P154P|SFRS11_uc001dev.2_5'UTR|SFRS11_uc001dew.2_Silent_p.P94P	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	154					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				0						GCGCTGTTCCACTGGCTGCTT	0.353												
SLC44A5	204962	broad.mit.edu	37	1	75672319	75672319	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:75672319T>C	uc001dgu.2	-	24	2277	c.2133A>G	c.(2131-2133)CAA>CAG	p.Q711Q	SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Silent_p.Q705Q|SLC44A5_uc010orb.1_Silent_p.Q581Q	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	711	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GGGGAACTAGTTGCTTCTTGA	0.383												
ST6GALNAC5	81849	broad.mit.edu	37	1	77510166	77510166	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:77510166A>G	uc001dhi.2	+	3	714	c.539A>G	c.(538-540)GAC>GGC	p.D180G	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	180	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						ATGCGGCGGGACGGCAAGGGC	0.602												
LPAR3	23566	broad.mit.edu	37	1	85331459	85331459	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:85331459A>C	uc001dkl.2	-	1	384	c.345T>G	c.(343-345)GCT>GCG	p.A115A	LPAR3_uc009wcj.1_Silent_p.A115A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	115	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						TGGTGAGGGAAGCAGTCAAGC	0.502												
COL24A1	255631	broad.mit.edu	37	1	86203164	86203164	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:86203164A>T	uc001dlj.2	-	58	4739	c.4697T>A	c.(4696-4698)CTT>CAT	p.L1566H	COL24A1_uc001dli.2_Missense_Mutation_p.L681H|COL24A1_uc010osd.1_Missense_Mutation_p.L866H|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1566	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGACAGCCAAGATTTGGGTC	0.313												
GBP5	115362	broad.mit.edu	37	1	89729464	89729464	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:89729464T>G	uc001dnc.2	-	9	1854	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	GBP5_uc001dnd.2_Missense_Mutation_p.E439D|GBP5_uc001dne.1_Missense_Mutation_p.E439D	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	439						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCTTCAGTTCTTCTGTTTTCT	0.428												
HFM1	164045	broad.mit.edu	37	1	91784878	91784878	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:91784878A>C	uc001doa.3	-	24	2752	c.2652T>G	c.(2650-2652)ATT>ATG	p.I884M	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I563M|HFM1_uc001dob.3_Missense_Mutation_p.I116M|HFM1_uc010osv.1_Missense_Mutation_p.I568M	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	884	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATGTCTGAAAATCTTTGCGG	0.343												
C1orf146	388649	broad.mit.edu	37	1	92707767	92707767	+	Splice_Site	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:92707767A>C	uc001doq.2	+	3	139	c.67_splice	c.e3-2	p.S23_splice	C1orf146_uc010ote.1_Intron	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	hypothetical protein LOC388649											ovary(1)	1		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTTAAAAAAGAGTTATGAA	0.274												
EVI5	7813	broad.mit.edu	37	1	93091424	93091424	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:93091424A>C	uc001dox.2	-	13	1557	c.1547T>G	c.(1546-1548)CTT>CGT	p.L516R	EVI5_uc010otf.1_Missense_Mutation_p.L527R|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	516	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGCTTCTCTAAGTTTCACAGC	0.348												
ABCA4	24	broad.mit.edu	37	1	94487448	94487448	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:94487448A>C	uc001dqh.2	-	33	4831	c.4727T>G	c.(4726-4728)CTT>CGT	p.L1576R		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1576	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAACCCAACAAGTGCTTCCCC	0.488												
DPYD	1806	broad.mit.edu	37	1	97564097	97564097	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:97564097G>A	uc001drv.2	-	21	2851	c.2714C>T	c.(2713-2715)TCA>TTA	p.S905L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	905					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTAAGTGGTGAAAAAGCTAC	0.348												
PALMD	54873	broad.mit.edu	37	1	100154541	100154541	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:100154541T>G	uc001dsg.2	+	7	1168	c.725T>G	c.(724-726)CTT>CGT	p.L242R	PALMD_uc001dsf.2_Missense_Mutation_p.L242R	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	242					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTAGAGGAACTTCTAAGACAA	0.453												
NTNG1	22854	broad.mit.edu	37	1	107973474	107973474	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:107973474A>C	uc001dvh.3	+	6	1908	c.1190A>C	c.(1189-1191)GAG>GCG	p.E397A	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	397	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAGCACTGTGAGTTATGCAGG	0.448												
AKNAD1	254268	broad.mit.edu	37	1	109380261	109380261	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:109380261T>G	uc001dwa.2	-	7	1716	c.1447A>C	c.(1447-1449)AGC>CGC	p.S483R	AKNAD1_uc010ovb.1_Missense_Mutation_p.S190R|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	483	Potential.									ovary(3)	3						GTATATTTGCTTTCATCCATT	0.413												
CELSR2	1952	broad.mit.edu	37	1	109794583	109794583	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:109794583A>G	uc001dxa.3	+	1	1943	c.1882A>G	c.(1882-1884)AGC>GGC	p.S628G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	628	Cadherin 5.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTGGGCACCAGCGTGGTGAC	0.542												
AHCYL1	10768	broad.mit.edu	37	1	110557426	110557426	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:110557426T>G	uc001dyx.2	+	6	989	c.622T>G	c.(622-624)TTC>GTC	p.F208V	AHCYL1_uc010ovw.1_Missense_Mutation_p.F161V|AHCYL1_uc001dyy.2_Missense_Mutation_p.F161V|AHCYL1_uc010ovx.1_Missense_Mutation_p.F161V	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	208					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AGAAGATGACTTCTGGTGGTG	0.448												
KCNA3	3738	broad.mit.edu	37	1	111216388	111216388	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:111216388G>A	uc001dzv.1	-	1	1268	c.1044C>T	c.(1042-1044)GCC>GCT	p.A348A		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	348	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGTCGTTCGGCCAGCTCGG	0.547												
CEPT1	10390	broad.mit.edu	37	1	111690419	111690419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:111690419C>T	uc001eah.1	+	2	291	c.83C>T	c.(82-84)ACA>ATA	p.T28I	CEPT1_uc001eag.2_Missense_Mutation_p.T28I|CEPT1_uc001eai.1_Missense_Mutation_p.T28I|CEPT1_uc001eaj.1_Missense_Mutation_p.T28I	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN	choline/ethanolaminephosphotransferase	28						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ATGAGTACTACAGGATGTGTA	0.433												
SIKE1	80143	broad.mit.edu	37	1	115323092	115323092	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:115323092G>A	uc001efo.3	-	1	217	c.137C>T	c.(136-138)GCG>GTG	p.A46V	SIKE1_uc001efp.3_Missense_Mutation_p.A46V	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 2	46						cytosol	protein binding				0						CGCTGTCCCCGCCTCCCGCAT	0.662												
PEX11B	8799	broad.mit.edu	37	1	145518200	145518200	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:145518200A>T	uc001eny.1	+	3	320	c.302A>T	c.(301-303)AAT>ATT	p.N101I	NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.N87I	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	101					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCTGTGACAATGTCCTGTGG	0.493												
BCL9	607	broad.mit.edu	37	1	147094129	147094129	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:147094129T>G	uc001epq.2	+	9	3700	c.2960T>G	c.(2959-2961)CTT>CGT	p.L987R	BCL9_uc010ozr.1_Missense_Mutation_p.L913R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	987	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCTGGAAGTCTTCCCTCTAGT	0.493			T	IGH@|IGL@	B-ALL							
HIST2H2AB	317772	broad.mit.edu	37	1	149859378	149859378	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:149859378C>G	uc001ete.2	-	1	89	c.89G>C	c.(88-90)CGA>CCA	p.R30P	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	30					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGTGCACTCGCCCCACCGG	0.667												
MTMR11	10903	broad.mit.edu	37	1	149905557	149905557	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:149905557A>C	uc001etl.3	-	9	1057	c.806T>G	c.(805-807)CTT>CGT	p.L269R	MTMR11_uc001etm.1_Missense_Mutation_p.L197R|MTMR11_uc010pbm.1_Missense_Mutation_p.L241R|MTMR11_uc010pbn.1_Missense_Mutation_p.L111R	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	269	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACAGCGGAGAAGATCACTGCC	0.557												
CTSS	1520	broad.mit.edu	37	1	150722509	150722509	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:150722509G>A	uc001evn.2	-	6	899	c.766C>T	c.(766-768)CAT>TAT	p.H256Y	CTSS_uc010pcj.1_Missense_Mutation_p.H206Y|CTSS_uc001evo.1_Missense_Mutation_p.H256Y	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	256					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGAAGGATGACGCGCATCT	0.333												
SELENBP1	8991	broad.mit.edu	37	1	151338906	151338906	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:151338906C>T	uc001exx.2	-	7	735	c.688G>A	c.(688-690)GTA>ATA	p.V230I	SELENBP1_uc010pcy.1_Missense_Mutation_p.V272I|SELENBP1_uc001exy.2_Missense_Mutation_p.V127I|SELENBP1_uc001exz.2_Missense_Mutation_p.V127I|SELENBP1_uc010pcz.1_Missense_Mutation_p.V168I|SELENBP1_uc009wms.2_Missense_Mutation_p.V66I|SELENBP1_uc009wmt.2_Missense_Mutation_p.V127I|SELENBP1_uc001eya.2_Missense_Mutation_p.V166I|SELENBP1_uc009wmu.2_Missense_Mutation_p.V127I	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	230					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CAGTCCCATACATATAAGTGG	0.572												
RPTN	126638	broad.mit.edu	37	1	152128952	152128952	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152128952T>G	uc001ezs.1	-	3	688	c.623A>C	c.(622-624)AAA>ACA	p.K208T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	208	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTCACTTTTTTACCAGAGCT	0.423												
FLG	2312	broad.mit.edu	37	1	152280726	152280726	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152280726T>G	uc001ezu.1	-	3	6672	c.6636A>C	c.(6634-6636)GAA>GAC	p.E2212D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2212	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGGAAGCTTCATGATGAT	0.567									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152282859	152282859	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152282859C>T	uc001ezu.1	-	3	4539	c.4503G>A	c.(4501-4503)CAG>CAA	p.Q1501Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTAGGATCCCTGCCTTCCTC	0.592									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152286146	152286146	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152286146A>T	uc001ezu.1	-	3	1252	c.1216T>A	c.(1216-1218)TCA>ACA	p.S406T	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	406	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCAGATGAAGCTTGCCCG	0.567									Ichthyosis			
KPRP	448834	broad.mit.edu	37	1	152732447	152732447	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152732447T>A	uc001fal.1	+	2	441	c.383T>A	c.(382-384)GTT>GAT	p.V128D		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	128	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAACCTGTTCAGACTTGC	0.498												
SPRR2F	6705	broad.mit.edu	37	1	153085145	153085145	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:153085145T>G	uc001fbi.2	-	2	124	c.65A>C	c.(64-66)AAG>ACG	p.K22T	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	22	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.|1.				keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTGGGCACTTTGGCGCGGG	0.572												
NUP210L	91181	broad.mit.edu	37	1	154030652	154030652	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154030652A>C	uc001fdw.2	-	22	3092	c.3020T>G	c.(3019-3021)CTT>CGT	p.L1007R	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.L1007R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1007						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGAAGAGCCAAGAACCCTCAC	0.393												
ATP8B2	57198	broad.mit.edu	37	1	154318828	154318828	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154318828T>C	uc001fex.2	+	25	2999	c.2999T>C	c.(2998-3000)CTC>CCC	p.L1000P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	986	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTCCGTGCTCATGTTCTTC	0.552												
PBXIP1	57326	broad.mit.edu	37	1	154918085	154918085	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154918085A>C	uc001ffr.2	-	10	2124	c.2065T>G	c.(2065-2067)TTC>GTC	p.F689V	PBXIP1_uc001ffs.2_Missense_Mutation_p.F660V|PBXIP1_uc010pep.1_Missense_Mutation_p.F534V	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	689					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTGGCTGAAGATGAAGTCC	0.542												
SYT11	23208	broad.mit.edu	37	1	155838114	155838114	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:155838114A>C	uc001fmg.2	+	2	656	c.393A>C	c.(391-393)GAA>GAC	p.E131D	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	131	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATGGGGAAGAACTAAGGAGCC	0.527												
SH2D2A	9047	broad.mit.edu	37	1	156779176	156779176	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:156779176T>G	uc001fqd.2	-	7	961	c.821A>C	c.(820-822)AAG>ACG	p.K274T	SH2D2A_uc001fqc.1_Missense_Mutation_p.K246T|SH2D2A_uc009wsh.2_Missense_Mutation_p.K284T|SH2D2A_uc001fqe.2_Missense_Mutation_p.K256T|SH2D2A_uc010phs.1_Missense_Mutation_p.K274T	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	274	Pro-rich.|SH3-binding (Potential).				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTGGAGGGCTTGGGGCGTGG	0.612												
INSRR	3645	broad.mit.edu	37	1	156812193	156812193	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:156812193T>C	uc010pht.1	-	18	3488	c.3234A>G	c.(3232-3234)GCA>GCG	p.A1078A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1078	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCTACCTCTGCCTCAGGCC	0.592												
FCRL3	115352	broad.mit.edu	37	1	157667015	157667015	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:157667015T>G	uc001frb.2	-	6	1051	c.759A>C	c.(757-759)GAA>GAC	p.E253D	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.E253D|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.E253D	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	253	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					ACCCTGAGTCTTCAGTCCACA	0.532												
KIRREL	55243	broad.mit.edu	37	1	158061341	158061341	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158061341A>G	uc001frn.3	+	11	1870	c.1466A>G	c.(1465-1467)GAG>GGG	p.E489G	KIRREL_uc010pib.1_Missense_Mutation_p.E389G|KIRREL_uc009wsq.2_Missense_Mutation_p.E325G|KIRREL_uc001fro.3_Missense_Mutation_p.E303G	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	489	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGGAAGAGCGAGGTGAC	0.592												
CD1A	909	broad.mit.edu	37	1	158226071	158226071	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158226071A>G	uc001frt.2	+	3	1136	c.603A>G	c.(601-603)CAA>CAG	p.Q201Q		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	201	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCCAGCGGCAAGGTCAGTCCT	0.463												
OR6Y1	391112	broad.mit.edu	37	1	158517021	158517021	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158517021G>T	uc010pil.1	-	1	875	c.875C>A	c.(874-876)CCC>CAC	p.P292H		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GTAAATGATGGGGTTGAGGAG	0.468												
SPTA1	6708	broad.mit.edu	37	1	158637785	158637785	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158637785T>G	uc001fst.1	-	15	2100	c.1901A>C	c.(1900-1902)AAG>ACG	p.K634T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	634	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGCTGGGTCTTATTAACTGC	0.418												
MNDA	4332	broad.mit.edu	37	1	158815671	158815671	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158815671T>G	uc001fsz.1	+	5	1065	c.865T>G	c.(865-867)TTT>GTT	p.F289V		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	289	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					TGTGTCTGACTTTAATCAAAA	0.343												
DARC	2532	broad.mit.edu	37	1	159175526	159175526	+	Silent	SNP	G	G	T	rs56326732		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159175526G>T	uc001fto.2	+	2	537	c.297G>T	c.(295-297)CTG>CTT	p.L99L	DARC_uc001ftp.3_Silent_p.L101L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	99	Helical; Name=2; (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)					GGCCTGTCCTGGCACAGCTGG	0.617												
DARC	2532	broad.mit.edu	37	1	159175541	159175542	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159175541_159175542GG>TT	uc001fto.2	+	2	552_553	c.312_313GG>TT	c.(310-315)GTGGGC>GTTTGC	p.G105C	DARC_uc001ftp.3_Missense_Mutation_p.G107C	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	105	Helical; Name=2; (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)					AGCTGGCTGTGGGCAGTGCCCT	0.609												
OR10J3	441911	broad.mit.edu	37	1	159284016	159284016	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159284016A>C	uc010piu.1	-	1	434	c.434T>G	c.(433-435)CTG>CGG	p.L145R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TCCAGAGGCCAGTTGGATACA	0.517												
OR10J1	26476	broad.mit.edu	37	1	159409693	159409693	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159409693A>C	uc010piv.1	+	1	145	c.145A>C	c.(145-147)ACC>CCC	p.T49P	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	49	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					ATACATCTTAACCTTAGCAGG	0.438												
OR10J1	26476	broad.mit.edu	37	1	159409696	159409696	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159409696T>G	uc010piv.1	+	1	148	c.148T>G	c.(148-150)TTA>GTA	p.L50V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATCTTAACCTTAGCAGGCAA	0.438												
OR10J1	26476	broad.mit.edu	37	1	159410501	159410501	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159410501A>C	uc010piv.1	+	1	953	c.953A>C	c.(952-954)AAG>ACG	p.K318T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	318	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					GTTGGTGGGAAGTTTTCCTGA	0.488												
OR10J5	127385	broad.mit.edu	37	1	159505755	159505755	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159505755A>C	uc010piw.1	-	1	43	c.43T>G	c.(43-45)TTG>GTG	p.L15V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					GAAAATCCCAAGAAAATGAAT	0.363												
NR1I3	9970	broad.mit.edu	37	1	161203037	161203037	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:161203037T>G	uc001fzx.2	-	4	533	c.330A>C	c.(328-330)CAA>CAC	p.Q110H	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzg.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzh.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzi.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzj.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzk.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzl.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzm.2_Missense_Mutation_p.Q35H|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzy.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzz.2_Missense_Mutation_p.Q110H|NR1I3_uc001gaa.2_Missense_Mutation_p.Q110H|NR1I3_uc001gab.2_Missense_Mutation_p.Q110H|NR1I3_uc001gac.2_Missense_Mutation_p.Q81H|NR1I3_uc010pkm.1_Missense_Mutation_p.Q81H|NR1I3_uc010pkn.1_Missense_Mutation_p.Q110H	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	110					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAGCTCTTCTTGCTCCTTAC	0.592												
ADCY10	55811	broad.mit.edu	37	1	167870911	167870911	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:167870911C>T	uc001ger.2	-	5	723	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	ADCY10_uc009wvk.2_Missense_Mutation_p.R50Q|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.R141Q|ADCY10_uc009wvm.2_Intron	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	142	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TATCTTGACTCGGATGTCTAG	0.463												
F5	2153	broad.mit.edu	37	1	169519204	169519204	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:169519204A>C	uc001ggg.1	-	10	1591	c.1446T>G	c.(1444-1446)ACT>ACG	p.T482T	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	482	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCACTTATAAGTATAGGTTT	0.383												
FMO2	2327	broad.mit.edu	37	1	171162601	171162601	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:171162601T>G	uc001ghk.1	+	3	377	c.260T>G	c.(259-261)CTT>CGT	p.L87R	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	87					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATTCTAAACTTCTGGAATAT	0.343												
FMO4	2329	broad.mit.edu	37	1	171310887	171310887	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:171310887T>G	uc001gho.2	+	10	1803	c.1586T>G	c.(1585-1587)CTT>CGT	p.L529R		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	529	Helical; (Potential).				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)					TCTCTTCTACTTATCTGTAAA	0.433												
SERPINC1	462	broad.mit.edu	37	1	173881028	173881028	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:173881028A>C	uc001gjt.2	-	3	652	c.533T>G	c.(532-534)CTT>CGT	p.L178R		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	178			L -> H (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTCTCCAAAAAGGCGATTGGC	0.463												
FAM129A	116496	broad.mit.edu	37	1	184764288	184764288	+	Silent	SNP	G	G	A	rs150744246		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:184764288G>A	uc001gra.2	-	14	2804	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						CCTGGGCCGCGCTGCTTTGCC	0.577												
C1orf26	54823	broad.mit.edu	37	1	185143603	185143603	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:185143603T>G	uc001grg.3	+	5	438	c.324T>G	c.(322-324)AAT>AAG	p.N108K	C1orf26_uc001grh.3_Missense_Mutation_p.N108K	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	108											0						CAAATGATAATCAAATTATTT	0.323												
HMCN1	83872	broad.mit.edu	37	1	186077709	186077709	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:186077709A>G	uc001grq.1	+	71	11198	c.10969A>G	c.(10969-10971)AGA>GGA	p.R3657G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3657	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACTTGGCTCAGAAATGGAGA	0.428												
RGS18	64407	broad.mit.edu	37	1	192128435	192128435	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:192128435T>G	uc001gsg.2	+	2	381	c.205T>G	c.(205-207)TTG>GTG	p.L69V		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	69					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						ATCTGGGCACTTGGCCAAAGA	0.358												
CFH	3075	broad.mit.edu	37	1	196654199	196654199	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:196654199T>C	uc001gtj.3	+	7	1036	c.796T>C	c.(796-798)TCA>CCA	p.S266P	CFH_uc001gti.3_Missense_Mutation_p.S266P|CFH_uc009wyw.2_Missense_Mutation_p.S266P|CFH_uc009wyx.2_Missense_Mutation_p.S202P	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	266	Sushi 5.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTCAGAAAAATCATGTGATAA	0.284												
CRB1	23418	broad.mit.edu	37	1	197390201	197390201	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:197390201T>A	uc001gtz.2	+	6	1378	c.1243T>A	c.(1243-1245)TTG>ATG	p.L415M	CRB1_uc010poz.1_Missense_Mutation_p.L346M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.L303M|CRB1_uc010ppb.1_Missense_Mutation_p.L415M|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Translation_Start_Site|CRB1_uc001gub.1_Missense_Mutation_p.L64M	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	415	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTGTGAGAACTTGCCTGGGAA	0.398												
RNPEP	6051	broad.mit.edu	37	1	201974779	201974779	+	Missense_Mutation	SNP	G	G	C	rs148685424	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:201974779G>C	uc001gxd.2	+	11	1917	c.1888G>C	c.(1888-1890)GCC>CCC	p.A630P	ELF3_uc001gxg.3_5'Flank|RNPEP_uc001gxe.2_Missense_Mutation_p.A331P|RNPEP_uc001gxf.2_Missense_Mutation_p.A499P	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	630					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCATCCACCGCCTCCCAGCT	0.582												
KDM5B	10765	broad.mit.edu	37	1	202704604	202704604	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:202704604T>C	uc001gyf.2	-	22	3492	c.3376A>G	c.(3376-3378)AGT>GGT	p.S1126G	KDM5B_uc009xag.2_Missense_Mutation_p.S1162G|KDM5B_uc001gyg.1_Missense_Mutation_p.S968G	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1126					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						TCCAGGTCACTCAGACTCTCT	0.393												
FMOD	2331	broad.mit.edu	37	1	203316609	203316609	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:203316609A>C	uc001gzr.2	-	2	926	c.790T>G	c.(790-792)TTC>GTC	p.F264V	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	264	LRR 7.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCCCCCGGAAGTAGCTATCG	0.562												
OPTC	26254	broad.mit.edu	37	1	203467901	203467901	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:203467901A>T	uc001gzu.1	+	4	579	c.463A>T	c.(463-465)ACT>TCT	p.T155S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	155	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTCGGAGGACTGCCTACCT	0.572												
LGTN	1939	broad.mit.edu	37	1	206773628	206773628	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:206773628T>A	uc001heh.2	-	8	1146	c.937A>T	c.(937-939)AGC>TGC	p.S313C	LGTN_uc009xbw.2_Missense_Mutation_p.S189C	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	313					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTTTGTAGCTTGACTTCTTT	0.468												
CR2	1380	broad.mit.edu	37	1	207639927	207639927	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207639927A>G	uc001hfw.2	+	2	209	c.115A>G	c.(115-117)ACC>GCC	p.T39A	CR2_uc001hfv.2_Missense_Mutation_p.T39A|CR2_uc009xch.2_Missense_Mutation_p.T39A	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	39	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TTATTATTCTACCCCCATTGC	0.428												
CR1L	1379	broad.mit.edu	37	1	207871182	207871182	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207871182A>G	uc001hga.3	+	7	1227	c.1106A>G	c.(1105-1107)CAG>CGG	p.Q369R	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	369	Sushi 6.					cytoplasm|extracellular region|membrane					0						CTTAATCTCCAGCTTGGAGCA	0.423												
FAM71A	149647	broad.mit.edu	37	1	212798506	212798506	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:212798506A>G	uc001hjk.2	+	1	691	c.287A>G	c.(286-288)GAA>GGA	p.E96G	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	96										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCGGCTGCGAAGAGTATGCT	0.572												
CENPF	1063	broad.mit.edu	37	1	214819436	214819436	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:214819436C>A	uc001hkm.2	+	13	6697	c.6523C>A	c.(6523-6525)CTT>ATT	p.L2175I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2271	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTAGTGATTCTTGATGCCGA	0.408												
USH2A	7399	broad.mit.edu	37	1	215987215	215987215	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:215987215T>G	uc001hku.1	-	49	9989	c.9602A>C	c.(9601-9603)AAG>ACG	p.K3201T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3201	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)		ATGTCCAGGCTTGGGGTTATA	0.393										HNSCC(13;0.011)		
MIA3	375056	broad.mit.edu	37	1	222801279	222801279	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:222801279A>C	uc001hnl.2	+	4	726	c.717A>C	c.(715-717)AAA>AAC	p.K239N	MIA3_uc009xea.1_Missense_Mutation_p.K75N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	239	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ATAAACTAAAAGTGCCAGAAA	0.388												
MIA3	375056	broad.mit.edu	37	1	222832160	222832160	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:222832160T>G	uc001hnl.2	+	19	4713	c.4704T>G	c.(4702-4704)ACT>ACG	p.T1568T	MIA3_uc001hnm.2_Silent_p.T446T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1568	Cytoplasmic (Potential).|Potential.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAGTAAAAACTTACAAGTAAG	0.408												
C1orf95	375057	broad.mit.edu	37	1	226784652	226784652	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:226784652T>G	uc010pvn.1	+	2	457	c.352T>G	c.(352-354)TTC>GTC	p.F118V		NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	hypothetical protein LOC375057	118						integral to membrane				ovary(1)	1	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CATGAGCATCTTCTGGGGCAT	0.602												
C1orf69	200205	broad.mit.edu	37	1	228362473	228362473	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:228362473C>T	uc001hsl.3	+	2	511	c.422C>T	c.(421-423)GCG>GTG	p.A141V	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	141					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AAGCACCTCGCGCTATACAGG	0.672												
OBSCN	84033	broad.mit.edu	37	1	228509606	228509606	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:228509606A>G	uc009xez.1	+	55	15108	c.15064A>G	c.(15064-15066)AGT>GGT	p.S5022G	OBSCN_uc001hsn.2_Missense_Mutation_p.S5022G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5022					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGCACCAAAAGTCCGGCTGA	0.637												
RYR2	6262	broad.mit.edu	37	1	237758836	237758836	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:237758836A>G	uc001hyl.1	+	34	4595	c.4475A>G	c.(4474-4476)GAG>GGG	p.E1492G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1492	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGGTGAGAGCATGAGC	0.468												
ZP4	57829	broad.mit.edu	37	1	238049176	238049176	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:238049176T>G	uc001hym.2	-	7	850	c.850A>C	c.(850-852)AGC>CGC	p.S284R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	284	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGCTGCAGCTGACATGGAGC	0.473												
ZNF496	84838	broad.mit.edu	37	1	247464342	247464342	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:247464342A>C	uc001ico.2	-	9	1708	c.1243T>G	c.(1243-1245)TTC>GTC	p.F415V	ZNF496_uc009xgv.2_Missense_Mutation_p.F451V|ZNF496_uc001icp.2_Missense_Mutation_p.F415V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	415	C2H2-type 1; degenerate.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTCCAGCGGAAGATTTTCCCA	0.657												
OR2AK2	391191	broad.mit.edu	37	1	248129218	248129218	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:248129218A>C	uc010pzd.1	+	1	585	c.585A>C	c.(583-585)GAA>GAC	p.E195D	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTTCTGTGAAGTTCCAGCTC	0.438												
OR14I1	401994	broad.mit.edu	37	1	248845045	248845045	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:248845045G>A	uc001ieu.1	-	1	561	c.561C>T	c.(559-561)TCC>TCT	p.S187S		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAACCTCACAGGAAACCAGGG	0.488												
AKR1C2	1646	broad.mit.edu	37	10	5040881	5040881	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:5040881T>C	uc010qan.1	-	5	685	c.506A>G	c.(505-507)AAC>AGC	p.N169S	AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Missense_Mutation_p.N143S|AKR1C2_uc001ihs.2_Missense_Mutation_p.N169S|AKR1C2_uc001iht.2_Missense_Mutation_p.N169S	NM_205845	NP_995317	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	169					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CAGCCTGTGGTTGAAGTTGGA	0.517												
AKR1C4	1109	broad.mit.edu	37	10	5242195	5242195	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:5242195T>G	uc001ihw.2	+	2	169	c.136T>G	c.(136-138)TTC>GTC	p.F46V		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	46					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	AGAAGCTGGCTTCCGCCATAT	0.453												
PRKCQ	5588	broad.mit.edu	37	10	6528061	6528061	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:6528061T>G	uc001ijj.1	-	9	911	c.836A>C	c.(835-837)AAC>ACC	p.N279T	PRKCQ_uc009xim.1_Missense_Mutation_p.N279T|PRKCQ_uc001iji.1_Missense_Mutation_p.N312T|PRKCQ_uc009xin.1_Missense_Mutation_p.N243T|PRKCQ_uc010qax.1_Missense_Mutation_p.N154T	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	279	Phorbol-ester/DAG-type 2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						GCCACAAAGGTTGGCCACCTT	0.522												
PRKCQ	5588	broad.mit.edu	37	10	6552963	6552963	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:6552963T>A	uc001ijj.1	-	3	387	c.312A>T	c.(310-312)GAA>GAT	p.E104D	PRKCQ_uc009xim.1_Missense_Mutation_p.E104D|PRKCQ_uc001iji.1_Missense_Mutation_p.E137D|PRKCQ_uc009xin.1_Missense_Mutation_p.E68D|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	104	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TTACCCATATTTCTGTCTTCC	0.473												
SFMBT2	57713	broad.mit.edu	37	10	7212906	7212906	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:7212906T>G	uc009xio.1	-	20	2619	c.2528A>C	c.(2527-2529)AAG>ACG	p.K843T	SFMBT2_uc001ijn.1_Missense_Mutation_p.K843T|SFMBT2_uc010qay.1_Missense_Mutation_p.K678T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	843	SAM.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTGAAATATCTTGGCCAAGGG	0.403												
CDNF	441549	broad.mit.edu	37	10	14867563	14867563	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:14867563A>G	uc001inb.1	-	3	338	c.300T>C	c.(298-300)ACT>ACC	p.T100T	CDNF_uc010qbv.1_Silent_p.T100T|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	100						extracellular region	growth factor activity				0						TCATTGGGCGAGTGACTTCAC	0.438												
NEBL	10529	broad.mit.edu	37	10	21129726	21129726	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21129726A>C	uc001iqi.2	-	13	1677	c.1280T>G	c.(1279-1281)CTT>CGT	p.L427R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	427	Nebulin 12.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTCTGAATTAAGTTCCATTCC	0.323												
C10orf140	387640	broad.mit.edu	37	10	21805290	21805290	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21805290C>T	uc009xkd.2	-	4	3715	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	407	Poly-Ala.					nucleus	nucleotide binding			ovary(1)	1						GCGGCGGAGGCCAGATGGTAC	0.627												
C10orf140	387640	broad.mit.edu	37	10	21805305	21805305	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21805305A>C	uc009xkd.2	-	4	3700	c.1447T>G	c.(1447-1449)TTC>GTC	p.F483V	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	402						nucleus	nucleotide binding			ovary(1)	1						TGGTACAAGAAGTTGGCCTGC	0.622												
ZNF33B	7582	broad.mit.edu	37	10	43089768	43089768	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:43089768C>G	uc001jaf.1	-	5	745	c.630G>C	c.(628-630)GAG>GAC	p.E210D	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E98D|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTGAATCTTCTCATGCTGCA	0.363												
PCDH15	65217	broad.mit.edu	37	10	55780134	55780134	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:55780134T>G	uc001jju.1	-	20	2964	c.2569A>C	c.(2569-2571)AGA>CGA	p.R857R	PCDH15_uc010qhq.1_Silent_p.R862R|PCDH15_uc010qhr.1_Silent_p.R857R|PCDH15_uc010qhs.1_Silent_p.R869R|PCDH15_uc010qht.1_Silent_p.R864R|PCDH15_uc010qhu.1_Silent_p.R857R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.R857R|PCDH15_uc010qhw.1_Silent_p.R820R|PCDH15_uc010qhx.1_Silent_p.R786R|PCDH15_uc010qhy.1_Silent_p.R862R|PCDH15_uc010qhz.1_Silent_p.R857R|PCDH15_uc010qia.1_Silent_p.R835R|PCDH15_uc010qib.1_Silent_p.R835R|PCDH15_uc001jjw.2_Silent_p.R857R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	857	Extracellular (Potential).|Cadherin 8.				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)				TCTGGGCTTCTTATCCGGTAA	0.393										HNSCC(58;0.16)		
CISD1	55847	broad.mit.edu	37	10	60037071	60037071	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:60037071A>G	uc001jkc.3	+	2	365	c.226A>G	c.(226-228)AGG>GGG	p.R76G		NM_018464	NP_060934	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	76	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	2 iron, 2 sulfur cluster binding|metal ion binding				0						CCGTTGTTGGAGGTCCAAAAA	0.368												
ANK3	288	broad.mit.edu	37	10	61815524	61815524	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:61815524T>G	uc001jky.2	-	42	13149	c.12957A>C	c.(12955-12957)AAA>AAC	p.K4319N	ANK3_uc001jkw.2_Missense_Mutation_p.K943N|ANK3_uc009xpa.2_Missense_Mutation_p.K943N|ANK3_uc001jkx.2_Missense_Mutation_p.K987N|ANK3_uc010qih.1_Missense_Mutation_p.K1810N|ANK3_uc001jkz.3_Missense_Mutation_p.K1803N|ANK3_uc001jkv.2_Missense_Mutation_p.K342N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4319					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCACACAGGGTTTAGTCTCTT	0.453												
TET1	80312	broad.mit.edu	37	10	70406019	70406019	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:70406019A>C	uc001jok.3	+	4	4038	c.3533A>C	c.(3532-3534)AAG>ACG	p.K1178T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1178					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AAGTGGGAAAAGTTGTCCTAT	0.398												
KIAA1274	27143	broad.mit.edu	37	10	72307084	72307084	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:72307084T>C	uc001jrd.3	+	18	2425	c.2144T>C	c.(2143-2145)CTG>CCG	p.L715P	KIAA1274_uc001jre.3_Missense_Mutation_p.L6P	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	715										ovary(2)|central_nervous_system(1)	3						GTGGTGCAGCTGCTACCCGAT	0.597												
SGPL1	8879	broad.mit.edu	37	10	72637083	72637083	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:72637083A>T	uc001jrm.2	+	15	1920	c.1698A>T	c.(1696-1698)AAA>AAT	p.K566N	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	566	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	GTTCTCCAAAACCCCACTGAA	0.498												
SLC29A3	55315	broad.mit.edu	37	10	73082659	73082659	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:73082659T>G	uc001jrr.3	+	2	205	c.148T>G	c.(148-150)TTC>GTC	p.F50V	SLC29A3_uc001jrs.3_Missense_Mutation_p.F50V|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	50	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CGAGGACCGCTTCTGTGGCAC	0.572												
KCNMA1	3778	broad.mit.edu	37	10	78778771	78778771	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:78778771C>T	uc001jxn.2	-	17	2192	c.2015G>A	c.(2014-2016)AGG>AAG	p.R672K	KCNMA1_uc001jxj.2_Missense_Mutation_p.R676K|KCNMA1_uc001jxk.1_Missense_Mutation_p.R287K|KCNMA1_uc009xrt.1_Missense_Mutation_p.R492K|KCNMA1_uc001jxl.1_Missense_Mutation_p.R326K|KCNMA1_uc001jxo.2_Missense_Mutation_p.R672K|KCNMA1_uc001jxm.2_Missense_Mutation_p.R672K|KCNMA1_uc001jxq.2_Missense_Mutation_p.R672K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	672	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAACTCTTACCTTTTAACTTC	0.408												
SFTPA2	729238	broad.mit.edu	37	10	81317142	81317142	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:81317142A>G	uc001kal.3	-	6	667	c.570T>C	c.(568-570)ACT>ACC	p.T190T	SFTPA2_uc001kan.3_Silent_p.T190T	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	190	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGGACCCTCAGTCAGGCCTA	0.557									Pulmonary_Fibrosis_Idiopathic			
GRID1	2894	broad.mit.edu	37	10	87373285	87373285	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:87373285T>A	uc001kdl.1	-	15	2581	c.2480A>T	c.(2479-2481)AAG>ATG	p.K827M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K398M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	827	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCTGTGCAGCTTGAGGGATTT	0.652										Multiple Myeloma(13;0.14)		
GRID1	2894	broad.mit.edu	37	10	87484327	87484327	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:87484327T>G	uc001kdl.1	-	11	1741	c.1640A>C	c.(1639-1641)AAG>ACG	p.K547T	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K118T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	547	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTCCTCGGGCTTCTTAATTAG	0.517										Multiple Myeloma(13;0.14)		
HECTD2	143279	broad.mit.edu	37	10	93257892	93257892	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:93257892T>G	uc001khl.2	+	16	1808	c.1708T>G	c.(1708-1710)TTA>GTA	p.L570V	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.L574V|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.L159V|HECTD2_uc001khn.1_Missense_Mutation_p.L220V	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	570	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						AAGTGAACTCTTATCACATGA	0.303												
IDE	3416	broad.mit.edu	37	10	94268496	94268496	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:94268496A>C	uc001kia.2	-	7	1125	c.1049T>G	c.(1048-1050)CTT>CGT	p.L350R		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	350					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGACTTAAGTTCTGATAA	0.428												
EXOC6	54536	broad.mit.edu	37	10	94714421	94714421	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:94714421A>C	uc001kig.2	+	16	1627	c.1561A>C	c.(1561-1563)ACA>CCA	p.T521P	EXOC6_uc010qnr.1_Missense_Mutation_p.T537P|EXOC6_uc001kie.2_Missense_Mutation_p.T516P|EXOC6_uc009xub.2_Missense_Mutation_p.T520P|EXOC6_uc009xuc.2_Missense_Mutation_p.T418P|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.T95P	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	521					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TAGAAAATCAACAAATCTGCT	0.303												
RRP12	23223	broad.mit.edu	37	10	99150259	99150259	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:99150259T>A	uc001knf.2	-	6	813	c.674A>T	c.(673-675)GAC>GTC	p.D225V	RRP12_uc009xvm.2_Missense_Mutation_p.D31V|RRP12_uc010qou.1_Missense_Mutation_p.D164V|RRP12_uc009xvn.2_Intron	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	225						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCTCCAGGTCTTGCTTCCG	0.612												
DNMBP	23268	broad.mit.edu	37	10	101716033	101716033	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:101716033A>T	uc001kqj.2	-	4	1290	c.1198T>A	c.(1198-1200)TCT>ACT	p.S400T	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	400					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)		GATGTGGGAGAGTCTGTGGCA	0.512												
NOLC1	9221	broad.mit.edu	37	10	103916821	103916821	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:103916821T>G	uc001kuo.2	+	2	401	c.166T>G	c.(166-168)TTC>GTC	p.F56V	NOLC1_uc001kup.2_Missense_Mutation_p.F56V|NOLC1_uc001kuq.2_Missense_Mutation_p.F56V|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	56					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATCTATAGCTTCTGGCTCAA	0.443												
INA	9118	broad.mit.edu	37	10	105048263	105048263	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:105048263T>G	uc001kws.2	+	3	1386	c.1337T>G	c.(1336-1338)CTT>CGT	p.L446R		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	446	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCTATCACTTAAGAAAGAG	0.463												
COL17A1	1308	broad.mit.edu	37	10	105807556	105807556	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:105807556A>T	uc001kxr.2	-	31	2445	c.2276T>A	c.(2275-2277)CTT>CAT	p.L759H		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	759	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATCCCAGTAAGACCTTGTTC	0.488												
DUSP5	1847	broad.mit.edu	37	10	112269879	112269879	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:112269879T>G	uc001kzd.2	+	4	1105	c.850T>G	c.(850-852)TTC>GTC	p.F284V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	284	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GACCAAGCAGTTCCGCCTGAA	0.552												
FGFR2	2263	broad.mit.edu	37	10	123246922	123246922	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:123246922T>G	uc010qtk.1	-	16	2650	c.2003A>C	c.(2002-2004)AAG>ACG	p.K668T	FGFR2_uc010qtg.1_Missense_Mutation_p.K556T|FGFR2_uc010qth.1_Missense_Mutation_p.K553T|FGFR2_uc010qti.1_Missense_Mutation_p.K579T|FGFR2_uc010qtj.1_Missense_Mutation_p.K669T|FGFR2_uc010qtl.1_Missense_Mutation_p.K552T|FGFR2_uc010qtm.1_Missense_Mutation_p.K551T|FGFR2_uc001lfl.3_Missense_Mutation_p.K669T|FGFR2_uc001lfm.2_Missense_Mutation_p.K580T|FGFR2_uc001lfg.3_Missense_Mutation_p.K276T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	668	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCATCCACTTGACTGGAAG	0.423		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
TACC2	10579	broad.mit.edu	37	10	123976324	123976324	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:123976324A>C	uc001lfv.2	+	11	7887	c.7527A>C	c.(7525-7527)AAA>AAC	p.K2509N	TACC2_uc001lfw.2_Missense_Mutation_p.K655N|TACC2_uc009xzx.2_Missense_Mutation_p.K2464N|TACC2_uc010qtv.1_Missense_Mutation_p.K2513N|TACC2_uc001lfx.2_Missense_Mutation_p.K213N|TACC2_uc001lfy.2_Missense_Mutation_p.K209N|TACC2_uc001lfz.2_Missense_Mutation_p.K587N|TACC2_uc001lga.2_Missense_Mutation_p.K587N|TACC2_uc009xzy.2_Missense_Mutation_p.K599N|TACC2_uc001lgb.2_Missense_Mutation_p.K544N|TACC2_uc010qtw.1_Missense_Mutation_p.K604N	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2509						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)				ACGAGACCAAATTCAGTTCAC	0.562												
ATHL1	80162	broad.mit.edu	37	11	294177	294177	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:294177T>G	uc010qvu.1	+	12	1904	c.1789T>G	c.(1789-1791)TTC>GTC	p.F597V	ATHL1_uc001lor.3_Missense_Mutation_p.F349V|ATHL1_uc001lou.3_Missense_Mutation_p.F172V|ATHL1_uc001lov.3_Missense_Mutation_p.F58V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	597					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCGGTGGTCTTCGGGTGCAC	0.657												
PGAP2	27315	broad.mit.edu	37	11	3838667	3838667	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:3838667G>A	uc001lys.2	+	3	376	c.250G>A	c.(250-252)GTC>ATC	p.V84I	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Missense_Mutation_p.V141I|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	84					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CACAGCCATGGTCTGGTGGGC	0.592												
OR52E8	390079	broad.mit.edu	37	11	5878214	5878214	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:5878214A>C	uc010qzr.1	-	1	719	c.719T>G	c.(718-720)CTC>CGC	p.L240R	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAGCTTTGAGTCGAGCTTC	0.418												
OR56B4	196335	broad.mit.edu	37	11	6129691	6129691	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:6129691T>G	uc010qzx.1	+	1	683	c.683T>G	c.(682-684)CTT>CGT	p.L228R		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTAATCCTTCACTCTGTG	0.463												
DCHS1	8642	broad.mit.edu	37	11	6645019	6645019	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:6645019C>A	uc001mem.1	-	21	8298	c.7888G>T	c.(7888-7890)GAC>TAC	p.D2630Y		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2630	Cadherin 25.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAGGGTCAGCGTCAGAG	0.592												
ST5	6764	broad.mit.edu	37	11	8752501	8752501	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:8752501G>A	uc001mgt.2	-	3	522	c.336C>T	c.(334-336)GAC>GAT	p.D112D	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.D112D|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.D112D	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	112					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTTTTGGGCGTCTCTCTTGC	0.617												
ZNF143	7702	broad.mit.edu	37	11	9492969	9492969	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:9492969T>C	uc001mhr.2	+	2	230	c.112_splice	c.e2+2	p.D38_splice	ZNF143_uc009yfu.2_Splice_Site_p.D38_splice|ZNF143_uc010rby.1_Splice_Site_p.D38_splice	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143						regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCGTGGCAGGTGAGCAGTTGT	0.403												
ARNTL	406	broad.mit.edu	37	11	13381932	13381932	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:13381932T>G	uc001mkr.2	+	9	828	c.420T>G	c.(418-420)ACT>ACG	p.T140T	ARNTL_uc001mko.2_Silent_p.T97T|ARNTL_uc001mkp.2_Silent_p.T140T|ARNTL_uc001mkq.2_Silent_p.T140T|ARNTL_uc001mks.2_Silent_p.T97T|ARNTL_uc001mkt.2_Silent_p.T140T|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.T97T|ARNTL_uc001mkv.1_Silent_p.T97T|ARNTL_uc001mkw.2_Silent_p.T97T|ARNTL_uc001mkx.2_Silent_p.T138T	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	140					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		ACAAACCAACTTTTCTATCAG	0.338												
MRGPRX2	117194	broad.mit.edu	37	11	19077439	19077439	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:19077439A>T	uc001mph.2	-	2	599	c.511T>A	c.(511-513)TTA>ATA	p.L171I		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	171	Extracellular (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						TCACTAAATAAGAAGCCACAG	0.532												
ZDHHC13	54503	broad.mit.edu	37	11	19164601	19164601	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:19164601T>C	uc001mpi.2	+	2	209	c.104T>C	c.(103-105)CTT>CCT	p.L35P	ZDHHC13_uc001mpj.2_Intron	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC domain containing 13 isoform	35					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0						AACAAAGAACTTGCCAATGCA	0.438												
NELL1	4745	broad.mit.edu	37	11	21592445	21592445	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:21592445G>A	uc001mqe.2	+	18	2269	c.2116G>A	c.(2116-2118)GGA>AGA	p.G706R	NELL1_uc001mqf.2_Missense_Mutation_p.G659R|NELL1_uc009yid.2_Missense_Mutation_p.G734R|NELL1_uc010rdo.1_Missense_Mutation_p.G649R|NELL1_uc010rdp.1_Missense_Mutation_p.G419R|NELL1_uc001mqh.2_Missense_Mutation_p.G251R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	706	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTATCGAAGTGGAGACAATTG	0.443												
PDHX	8050	broad.mit.edu	37	11	34988225	34988225	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:34988225A>G	uc001mvt.2	+	6	1206	c.680A>G	c.(679-681)AAG>AGG	p.K227R	PDHX_uc010rep.1_Missense_Mutation_p.K212R|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	227					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAACGGGCAAGATTACCGAG	0.493												
ACCS	84680	broad.mit.edu	37	11	44104811	44104811	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:44104811C>G	uc009yks.1	+	13	1348	c.1204C>G	c.(1204-1206)CCC>GCC	p.P402A	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.P402A	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	402							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						ATTGGGGATCCCCTTCTTGAG	0.562												
EXT2	2132	broad.mit.edu	37	11	44265716	44265716	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:44265716A>C	uc001mxz.2	+	14	2370	c.2036A>C	c.(2035-2037)AAG>ACG	p.K679T	EXT2_uc010rfo.1_Missense_Mutation_p.K707T|EXT2_uc001mxy.2_Missense_Mutation_p.K692T|EXT2_uc009ykt.2_Missense_Mutation_p.K689T|EXT2_uc001mya.2_Missense_Mutation_p.K712T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	679	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic 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			lung(2)|breast(2)|skin(1)	5						TGCATCAACAAGTTTGCTTCA	0.517			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
ZNF408	79797	broad.mit.edu	37	11	46724676	46724676	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:46724676A>T	uc001nde.1	+	4	765	c.535A>T	c.(535-537)AGT>TGT	p.S179C	ARHGAP1_uc001ndd.2_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.1_Missense_Mutation_p.S171C	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						TGAGGGCCCAAGTCTCACCCA	0.617												
F2	2147	broad.mit.edu	37	11	46740791	46740791	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:46740791G>A	uc001ndf.3	+	1	49	c.6G>A	c.(4-6)GCG>GCA	p.A2A	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	2					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACACTATGGCGCACGTCCGAG	0.577												
RAPSN	5913	broad.mit.edu	37	11	47464290	47464290	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:47464290T>G	uc001nfi.1	-	3	822	c.608A>C	c.(607-609)AAG>ACG	p.K203T	RAPSN_uc001nfj.1_Missense_Mutation_p.K203T|RAPSN_uc009yls.1_Missense_Mutation_p.K203T	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	203					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						GGCCCGGTACTTCAGGCTCCA	0.617												
OR4X2	119764	broad.mit.edu	37	11	48267363	48267363	+	Missense_Mutation	SNP	C	C	A	rs144663280	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:48267363C>A	uc001ngs.1	+	1	708	c.708C>A	c.(706-708)TTC>TTA	p.F236L		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGTCCCATTTCGCTGTGGTTA	0.522												
OR4A47	403253	broad.mit.edu	37	11	48510658	48510658	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:48510658T>C	uc010rhx.1	+	1	314	c.314T>C	c.(313-315)TTC>TCC	p.F105S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAGCACATTTTCGGTGGGTCA	0.453												
OR4A15	81328	broad.mit.edu	37	11	55135520	55135520	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:55135520T>G	uc010rif.1	+	1	161	c.161T>G	c.(160-162)GTT>GGT	p.V54G		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	54	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGGCAAAAGGTTTTATTTGTC	0.448												
OR4C6	219432	broad.mit.edu	37	11	55432732	55432732	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:55432732T>C	uc001nht.3	+	3	355	c.90T>C	c.(88-90)CTT>CTC	p.L30L	OR4C6_uc010rik.1_Silent_p.L30L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTGTGTTTCTTGTCATGTATG	0.378												
OR5A2	219981	broad.mit.edu	37	11	59190129	59190129	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59190129T>C	uc010rkt.1	-	1	298	c.298A>G	c.(298-300)ACT>GCT	p.T100A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGTACTGAGTGGCACAGCCA	0.512												
OSBP	5007	broad.mit.edu	37	11	59344127	59344127	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59344127A>C	uc001noc.1	-	14	2827	c.2347T>G	c.(2347-2349)TTA>GTA	p.L783V		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	783					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATATGGGTTAACTCCTTGGTA	0.423												
MS4A6A	64231	broad.mit.edu	37	11	59949127	59949127	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59949127T>C	uc001nor.2	-	2	312	c.74A>G	c.(73-75)GAG>GGG	p.E25G	MS4A6A_uc001noq.2_Missense_Mutation_p.E25G|MS4A6A_uc001nos.3_Missense_Mutation_p.E53G|MS4A6A_uc009ymv.2_Missense_Mutation_p.E25G|MS4A6A_uc001not.2_Missense_Mutation_p.E25G|MS4A6A_uc010rla.1_Missense_Mutation_p.E53G|MS4A6A_uc010rlb.1_Missense_Mutation_p.E25G	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	25	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TTCGGGTTTCTCTGCTTGGGA	0.443												
MS4A10	341116	broad.mit.edu	37	11	60561446	60561446	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:60561446A>C	uc001npz.1	+	5	458	c.362A>C	c.(361-363)AAG>ACG	p.K121T		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	121	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						CACCTATAGAAGATGTTGTGC	0.512												
SCGB1D1	10648	broad.mit.edu	37	11	61959609	61959609	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:61959609T>C	uc001nsz.1	+	2	184	c.137T>C	c.(136-138)CTT>CCT	p.L46P		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	46						extracellular space	binding			skin(1)	1						AAGTTCCAACTTGCCAAATTT	0.423												
AHNAK	79026	broad.mit.edu	37	11	62300884	62300884	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:62300884T>G	uc001ntl.2	-	5	1305	c.1005A>C	c.(1003-1005)GAA>GAC	p.E335D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	335					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACAGAGACTTCAGGTGCAG	0.552												
SLC22A6	9356	broad.mit.edu	37	11	62749434	62749434	+	Missense_Mutation	SNP	A	A	C	rs11568623		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:62749434A>C	uc001nwk.2	-	4	984	c.677T>G	c.(676-678)ATT>AGT	p.I226S	SLC22A6_uc001nwl.2_Missense_Mutation_p.I226S|SLC22A6_uc001nwj.2_Missense_Mutation_p.I226S|SLC22A6_uc001nwm.2_Missense_Mutation_p.I226S	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	226	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GACATAGCCAATCAAGGTGCC	0.592												
RASGRP2	10235	broad.mit.edu	37	11	64502684	64502684	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:64502684A>C	uc009ypu.2	-	12	1539	c.1312T>G	c.(1312-1314)TTT>GTT	p.F438V	RASGRP2_uc001oat.2_Missense_Mutation_p.F340V|RASGRP2_uc001oau.2_Missense_Mutation_p.F293V|RASGRP2_uc009ypv.2_Missense_Mutation_p.F438V|RASGRP2_uc009ypw.2_Missense_Mutation_p.F438V	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	438	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						TCGACGTCAAAGTTCCGGAAC	0.577												
NAALADL1	10004	broad.mit.edu	37	11	64822016	64822016	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:64822016A>G	uc001ocn.2	-	5	814	c.798T>C	c.(796-798)TCT>TCC	p.S266S	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	266	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CGCGGAAGGAAGAGGGGACGG	0.577												
SLC25A45	283130	broad.mit.edu	37	11	65146879	65146879	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:65146879A>C	uc001odp.1	-	4	729	c.307T>G	c.(307-309)TTC>GTC	p.F103V	SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Missense_Mutation_p.F79V|SLC25A45_uc001odr.1_Missense_Mutation_p.F103V|SLC25A45_uc001ods.1_Missense_Mutation_p.F61V|SLC25A45_uc001odt.1_Missense_Mutation_p.F61V	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	103	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CCCGCTAGGAAGATGTGCATG	0.632												
TSGA10IP	254187	broad.mit.edu	37	11	65714797	65714797	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:65714797A>G	uc001ogk.1	+	5	533	c.501A>G	c.(499-501)CAA>CAG	p.Q167Q	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	167											0						CAGAGGCGCAAAACCTGAAGG	0.652												
NPAS4	266743	broad.mit.edu	37	11	66190308	66190308	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:66190308A>T	uc001ohx.1	+	4	770	c.594A>T	c.(592-594)AGA>AGT	p.R198S	NPAS4_uc010rpc.1_Missense_Mutation_p.D25V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	198					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TGGAGCCGAGACCCCGCCCAG	0.622												
NPAS4	266743	broad.mit.edu	37	11	66192045	66192045	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:66192045T>G	uc001ohx.1	+	7	1860	c.1684T>G	c.(1684-1686)TTT>GTT	p.F562V	NPAS4_uc010rpc.1_Missense_Mutation_p.F352V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	562					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CAAGACTTACTTTGCCCAGGA	0.577												
CABP2	51475	broad.mit.edu	37	11	67287296	67287296	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:67287296T>C	uc001omc.1	-	6	707	c.605A>G	c.(604-606)GAC>GGC	p.D202G	CABP2_uc001omd.1_Missense_Mutation_p.D145G|CABP2_uc001ome.1_Missense_Mutation_p.D208G	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	202	EF-hand 4.|3 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CCCATTGAGGTCCACGTCCTG	0.657												
PPFIA1	8500	broad.mit.edu	37	11	70218481	70218481	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:70218481T>G	uc001opo.2	+	22	3224	c.3026T>G	c.(3025-3027)GTC>GGC	p.V1009G	PPFIA1_uc001opn.1_Missense_Mutation_p.V1009G|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.V148G|PPFIA1_uc001ops.2_Missense_Mutation_p.V48G	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	1009	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGAAAATGGTCGACAGTTTT	0.443												
SHANK2	22941	broad.mit.edu	37	11	70331991	70331991	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:70331991T>C	uc001oqc.2	-	21	4485	c.4407A>G	c.(4405-4407)TCA>TCG	p.S1469S	SHANK2_uc010rqn.1_Silent_p.S881S|SHANK2_uc001opz.2_Silent_p.S874S|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1090					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCAGACAGTTTGAAAGACTGG	0.572												
NUMA1	4926	broad.mit.edu	37	11	71715136	71715136	+	Missense_Mutation	SNP	G	G	A	rs113245212		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:71715136G>A	uc001orl.1	-	26	6305	c.6133C>T	c.(6133-6135)CGC>TGC	p.R2045C	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R227C|NUMA1_uc009ysw.1_Missense_Mutation_p.R1612C|NUMA1_uc001ork.1_Missense_Mutation_p.R909C|NUMA1_uc001orm.1_Missense_Mutation_p.R2031C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2045					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						ATCGACTGGCGCCGGTCAGCC	0.637			T	RARA	APL							
ARHGEF17	9828	broad.mit.edu	37	11	73022308	73022308	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73022308A>C	uc001otu.2	+	1	2646	c.2625A>C	c.(2623-2625)GAA>GAC	p.E875D		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	875					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						AGCCAGAAGAACCTGGTGCCA	0.642												
FAM168A	23201	broad.mit.edu	37	11	73131004	73131004	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73131004A>T	uc001otz.1	-	5	498	c.219T>A	c.(217-219)TCT>TCA	p.S73S	FAM168A_uc001oty.1_Silent_p.S64S|FAM168A_uc009ytp.1_Silent_p.S64S	NM_015159	NP_055974	Q92567	F168A_HUMAN	hypothetical protein LOC23201	73											0						TGCCACAGGAAGACGAGTTCT	0.517												
C2CD3	26005	broad.mit.edu	37	11	73814511	73814511	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73814511A>C	uc001ouu.2	-	14	2472	c.2245T>G	c.(2245-2247)TTA>GTA	p.L749V		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	749						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					ATTTGGTTTAAGTTTTGTGGA	0.443												
NAALAD2	10003	broad.mit.edu	37	11	89880599	89880599	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:89880599A>C	uc001pdf.3	+	3	405	c.296A>C	c.(295-297)AAG>ACG	p.K99T	NAALAD2_uc009yvx.2_Missense_Mutation_p.K99T|NAALAD2_uc009yvy.2_Missense_Mutation_p.K99T|NAALAD2_uc001pdd.2_Missense_Mutation_p.K99T|NAALAD2_uc001pde.2_Missense_Mutation_p.K99T	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	99	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCAGCCAAGTTGGTTCAT	0.378												
FAT3	120114	broad.mit.edu	37	11	92531144	92531144	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:92531144A>G	uc001pdj.3	+	9	4982	c.4965A>G	c.(4963-4965)GCA>GCG	p.A1655A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1655	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCTACTGCAATTGTGCGCA	0.443										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92531514	92531514	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:92531514A>C	uc001pdj.3	+	9	5352	c.5335A>C	c.(5335-5337)AGT>CGT	p.S1779R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1779	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCAGCCTAAGTGAGGCTGC	0.453										TCGA Ovarian(4;0.039)		
DYNC2H1	79659	broad.mit.edu	37	11	103049955	103049955	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:103049955T>C	uc001pho.2	+	39	6484	c.6340T>C	c.(6340-6342)TTT>CTT	p.F2114L	DYNC2H1_uc001phn.1_Missense_Mutation_p.F2114L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2114	AAA 2 (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)		GGGAATGATCTTTCTTAGGTA	0.308												
DYNC2H1	79659	broad.mit.edu	37	11	103070185	103070185	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:103070185T>G	uc001pho.2	+	49	8212	c.8068T>G	c.(8068-8070)TTC>GTC	p.F2690V	DYNC2H1_uc001phn.1_Missense_Mutation_p.F2690V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2690	AAA 4 (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)		ACTGAAGCAGTTCAAAAATGA	0.388												
HTR3A	3359	broad.mit.edu	37	11	113857523	113857523	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:113857523T>A	uc010rxb.1	+	7	1240	c.1007T>A	c.(1006-1008)CTT>CAT	p.L336H	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGTGTCTCTTGCCTCTGCC	0.597												
PCSK7	9159	broad.mit.edu	37	11	117097908	117097908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:117097908C>T	uc001pqr.2	-	5	935	c.734G>A	c.(733-735)TGT>TAT	p.C245Y		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	245	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCCCACGGCACAGAAGCTGTT	0.607			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BACE1	23621	broad.mit.edu	37	11	117162426	117162426	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:117162426A>T	uc001pqz.2	-	6	1403	c.942_splice	c.e6+1	p.S314_splice	BACE1_uc001pqw.2_Splice_Site_p.S289_splice|BACE1_uc001pqx.2_Splice_Site_p.S245_splice|BACE1_uc001pqy.2_Splice_Site_p.S270_splice|BACE1_uc010rxg.1_Splice_Site_p.S189_splice|BACE1_uc010rxh.1_Splice_Site_p.S214_splice|BACE1_uc009yzo.1_Intron|uc010rxi.1_RNA	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A						beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TAGTCCACTCACGGAGGAGGC	0.502												
MLL	4297	broad.mit.edu	37	11	118343628	118343628	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:118343628T>G	uc001pta.2	+	3	1777	c.1754T>G	c.(1753-1755)CTT>CGT	p.L585R	MLL_uc001ptb.2_Missense_Mutation_p.L585R|MLL_uc001psz.1_Missense_Mutation_p.L618R|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	585					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACACCTTGGCTTATGCCTCCA	0.552			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
GRIK4	2900	broad.mit.edu	37	11	120673451	120673451	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:120673451C>T	uc001pxn.2	+	4	419	c.132C>T	c.(130-132)TCC>TCT	p.S44S	GRIK4_uc009zav.1_Silent_p.S44S|GRIK4_uc009zaw.1_Silent_p.S44S|GRIK4_uc009zax.1_Silent_p.S44S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	44	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGCGGCTCTCCATCACCCTGG	0.582											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRIK4	2900	broad.mit.edu	37	11	120707510	120707510	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:120707510T>G	uc001pxn.2	+	8	988	c.701T>G	c.(700-702)CTT>CGT	p.L234R	GRIK4_uc009zav.1_Missense_Mutation_p.L234R|GRIK4_uc009zaw.1_Missense_Mutation_p.L234R|GRIK4_uc009zax.1_Missense_Mutation_p.L234R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	234	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCAGCCGAACTTGGGATGGTG	0.448												
UBASH3B	84959	broad.mit.edu	37	11	122653921	122653921	+	Silent	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:122653921T>A	uc001pyi.3	+	5	1122	c.762T>A	c.(760-762)GCT>GCA	p.A254A		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	254	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCCGATTTGCTAACCATGAGG	0.527												
OR6X1	390260	broad.mit.edu	37	11	123624601	123624601	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:123624601A>C	uc010rzy.1	-	1	626	c.626T>G	c.(625-627)CTT>CGT	p.L209R		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTAAAGAGAAGTGACCCTGG	0.478												
OR8B12	219858	broad.mit.edu	37	11	124413447	124413447	+	Missense_Mutation	SNP	G	G	A	rs146463957	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124413447G>A	uc010sam.1	-	1	104	c.104C>T	c.(103-105)ACG>ATG	p.T35M		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CACGGTGACCGTGTAGAAACC	0.507												
HEPACAM	220296	broad.mit.edu	37	11	124793853	124793853	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124793853T>G	uc001qbk.2	-	3	887	c.481A>C	c.(481-483)AGC>CGC	p.S161R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.S161R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	161	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGGCCTCGCTGAGCTCCAGC	0.562												
HEPACAM	220296	broad.mit.edu	37	11	124794827	124794827	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124794827T>G	uc001qbk.2	-	2	630	c.224A>C	c.(223-225)AAG>ACG	p.K75T	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.K75T	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	75	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGTCACTGGCTTGTCCCGCTT	0.582												
FAM118B	79607	broad.mit.edu	37	11	126120444	126120444	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:126120444A>G	uc001qdf.2	+	5	566	c.383A>G	c.(382-384)TAT>TGT	p.Y128C	FAM118B_uc009zca.2_Missense_Mutation_p.Y132C|FAM118B_uc001qdg.2_Missense_Mutation_p.Y128C	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	128											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GACTGTTTATATGAAGTATTT	0.393												
SPATA19	219938	broad.mit.edu	37	11	133715312	133715312	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:133715312A>C	uc001qgv.1	-	1	81	c.30T>G	c.(28-30)ATT>ATG	p.I10M		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	10					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TCCGAGCAAGAATATACACAA	0.448												
CCDC77	84318	broad.mit.edu	37	12	521068	521068	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:521068A>C	uc001qig.2	+	4	374	c.194A>C	c.(193-195)AAG>ACG	p.K65T	CCDC77_uc009zdk.2_Missense_Mutation_p.K33T|CCDC77_uc010sdp.1_Missense_Mutation_p.K33T|CCDC77_uc010sdq.1_Missense_Mutation_p.K33T	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	65	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TATCAAAAGAAGATGGCTGAG	0.473												
FBXL14	144699	broad.mit.edu	37	12	1675940	1675940	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:1675940T>G	uc001qjh.2	-	2	1330	c.1231A>C	c.(1231-1233)AGA>CGA	p.R411R		NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	411						cytoplasm				ovary(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			ccccgagttctcacagtgaat	0												
VWF	7450	broad.mit.edu	37	12	6105331	6105331	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:6105331T>G	uc001qnn.1	-	35	6150	c.5900A>C	c.(5899-5901)AAG>ACG	p.K1967T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1967	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCCAGTCAGCTTGAAATTCTG	0.537												
VWF	7450	broad.mit.edu	37	12	6128304	6128304	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:6128304A>C	uc001qnn.1	-	28	4530	c.4280T>G	c.(4279-4281)CTC>CGC	p.L1427R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1427	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTTCTCGATGAGGCGGATCTG	0.572												
ST8SIA1	6489	broad.mit.edu	37	12	22354967	22354967	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:22354967T>C	uc001rfo.3	-	5	1072	c.590A>G	c.(589-591)CAG>CGG	p.Q197R	ST8SIA1_uc009zix.2_Missense_Mutation_p.Q54R	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	197	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CAGAAGGTTCTGAAACCTATT	0.383												
IFLTD1	160492	broad.mit.edu	37	12	25702398	25702398	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:25702398A>G	uc001rgs.2	-	2	259	c.109T>C	c.(109-111)TCA>CCA	p.S37P	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S58P|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S58P	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	37						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTGAAGATGACAATGGCAGT	0.368												
PRICKLE1	144165	broad.mit.edu	37	12	42858715	42858715	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:42858715T>C	uc010skv.1	-	7	1408	c.1121A>G	c.(1120-1122)AAA>AGA	p.K374R	PRICKLE1_uc001rnl.2_Missense_Mutation_p.K374R|PRICKLE1_uc010skw.1_Missense_Mutation_p.K374R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.K374R	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	374					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCATCCAATTTTCGAGAAAG	0.473												
TUBA1A	7846	broad.mit.edu	37	12	49579658	49579658	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:49579658T>G	uc009zlf.2	-	4	763	c.491A>C	c.(490-492)AAG>ACG	p.K164T	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.K164T|TUBA1A_uc001rtq.2_Missense_Mutation_p.K11T|TUBA1A_uc001rtr.2_Missense_Mutation_p.K11T|TUBA1A_uc009zlg.2_Missense_Mutation_p.K11T	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	164					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CAGCTTGGACTTCTTGCCATA	0.552												
FAM186B	84070	broad.mit.edu	37	12	49993476	49993476	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:49993476A>G	uc001ruo.2	-	4	2120	c.1947T>C	c.(1945-1947)TCT>TCC	p.S649S	FAM186B_uc010smk.1_Silent_p.S559S	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	649						protein complex				ovary(1)	1						ATATCTGCAAAGAGGGCCAGG	0.532												
DIP2B	57609	broad.mit.edu	37	12	51138610	51138610	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:51138610T>G	uc001rwv.2	+	38	4875	c.4719T>G	c.(4717-4719)GCT>GCG	p.A1573A	DIP2B_uc009zlt.2_Silent_p.A1003A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1573						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TCTACGTGGCTTATAACATGT	0.512												
KRT84	3890	broad.mit.edu	37	12	52777521	52777521	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:52777521T>C	uc001sah.1	-	2	656	c.608A>G	c.(607-609)CAG>CGG	p.Q203R		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	203	Rod.|Linker 1.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATACATTTCTGCTCTTGGAG	0.527												
KRT1	3848	broad.mit.edu	37	12	53068985	53068985	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53068985T>G	uc001sau.1	-	9	1986	c.1927A>C	c.(1927-1929)ACC>CCC	p.T643P	KRT1_uc001sav.1_Missense_Mutation_p.T636P	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	643	Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						CTTTATCTGGTTACTCCGGAA	0.512												
KRT1	3848	broad.mit.edu	37	12	53071158	53071158	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53071158T>C	uc001sau.1	-	5	1129	c.1070A>G	c.(1069-1071)CAG>CGG	p.Q357R	KRT1_uc001sav.1_Missense_Mutation_p.Q357R	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	357	Rod.|Coil 2.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						ATCCTCGTACTGGGCCTTGAC	0.507												
KRT4	3851	broad.mit.edu	37	12	53203219	53203219	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53203219T>G	uc001saz.2	-	4	1275	c.1004A>C	c.(1003-1005)AAG>ACG	p.K335T		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	261						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						ACTGTCCACCTTGGCCTCCAA	0.552												
RDH16	8608	broad.mit.edu	37	12	57346625	57346625	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:57346625T>G	uc001smi.3	-	3	894	c.722A>C	c.(721-723)AAG>ACG	p.K241T	RDH16_uc009zpa.2_Missense_Mutation_p.K96T	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	241	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						TGCAACAAACTTCTCGCCATA	0.498												
SLC26A10	65012	broad.mit.edu	37	12	58018700	58018700	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:58018700T>G	uc001spe.2	+	10	1590	c.1279T>G	c.(1279-1281)TTT>GTT	p.F427V	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	427	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ACCACTGTACTTTGGGACCCG	0.557												
FAM19A2	338811	broad.mit.edu	37	12	62147518	62147518	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:62147518A>G	uc001sqw.2	-	4	1782	c.269T>C	c.(268-270)GTG>GCG	p.V90A	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.V90A|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	90						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCTGTTCCACTATTGAAGC	0.383												
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:66718889A>C	uc001sti.2	+	11	2681	c.2653A>C	c.(2653-2655)ACT>CCT	p.T885P	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343												
BEST3	144453	broad.mit.edu	37	12	70049460	70049460	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:70049460T>C	uc001svg.2	-	10	1461	c.1234A>G	c.(1234-1236)AGC>GGC	p.S412G	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S199G|BEST3_uc010stm.1_Missense_Mutation_p.S306G	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	412	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)			CTCCTGTAGCTTCTTCTTCTG	0.562												
ANKS1B	56899	broad.mit.edu	37	12	99837566	99837566	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:99837566A>C	uc001tge.1	-	11	1877	c.1460T>G	c.(1459-1461)GTT>GGT	p.V487G	ANKS1B_uc001tgf.1_Missense_Mutation_p.V67G|ANKS1B_uc009ztt.1_Missense_Mutation_p.V453G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	487						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGAGTAGTAACTGCTACCTC	0.378												
STAB2	55576	broad.mit.edu	37	12	104100724	104100724	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:104100724A>G	uc001tjw.2	+	38	4337	c.4151A>G	c.(4150-4152)GAG>GGG	p.E1384G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1384	Extracellular (Potential).|Laminin EGF-like 1.				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						ACAGCCTGCGAGACCTGCACC	0.557												
CUX2	23316	broad.mit.edu	37	12	111779780	111779780	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:111779780G>A	uc001tsa.1	+	21	3735	c.3582G>A	c.(3580-3582)TCG>TCA	p.S1194S		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCTACCCCTCGCAGCAGACCA	0.602												
NOS1	4842	broad.mit.edu	37	12	117705928	117705928	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:117705928A>C	uc001twm.1	-	11	2547	c.1861T>G	c.(1861-1863)TTA>GTA	p.L621V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	621					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCATGTCTAAGTTCATCTTC	0.527												
NOS1	4842	broad.mit.edu	37	12	117723967	117723967	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:117723967T>G	uc001twm.1	-	6	1918	c.1232A>C	c.(1231-1233)AAG>ACG	p.K411T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	411					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGGCGTGCTTGGCCCCATA	0.552												
CCDC60	160777	broad.mit.edu	37	12	119960794	119960794	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:119960794A>C	uc001txe.2	+	10	1556	c.1091A>C	c.(1090-1092)AAG>ACG	p.K364T	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	364										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGTCCAGAAGAAGTCTAAA	0.473												
GCN1L1	10985	broad.mit.edu	37	12	120597772	120597772	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:120597772T>G	uc001txo.2	-	24	2619	c.2606A>C	c.(2605-2607)AAC>ACC	p.N869T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	869					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGGACGGGTTCTTGGCCAG	0.597												
SFRS9	8683	broad.mit.edu	37	12	120899957	120899957	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:120899957A>C	uc001tyi.2	-	4	677	c.531T>G	c.(529-531)ACT>ACG	p.T177T		NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	177	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGATGTAGGAAGTTTCACCCT	0.423												
CCDC62	84660	broad.mit.edu	37	12	123290807	123290807	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:123290807T>G	uc001udc.2	+	10	1961	c.1816T>G	c.(1816-1818)TTA>GTA	p.L606V	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.L606V|CCDC62_uc001ude.2_Missense_Mutation_p.L367V	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	606						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TACGAGTTTGTTAATCTACAA	0.428												
NCOR2	9612	broad.mit.edu	37	12	124885181	124885181	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:124885181T>C	uc010tba.1	-	15	1796	c.1679A>G	c.(1678-1680)GAG>GGG	p.E560G	NCOR2_uc010tay.1_Missense_Mutation_p.E560G|NCOR2_uc010taz.1_Missense_Mutation_p.E560G|NCOR2_uc010tbb.1_Missense_Mutation_p.E560G|NCOR2_uc010tbc.1_Missense_Mutation_p.E559G|NCOR2_uc001ugj.1_Missense_Mutation_p.E560G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	560	Potential.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCCTCCTTCTCGTCGTTGTC	0.592												
GLT1D1	144423	broad.mit.edu	37	12	129467525	129467525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:129467525G>T	uc010tbh.1	+	13	955	c.946G>T	c.(946-948)GAA>TAA	p.E316*	GLT1D1_uc001uhx.1_Nonsense_Mutation_p.E231*|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	311					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATTAGAAAAGGAAATCGTAGT	0.438												
RNF17	56163	broad.mit.edu	37	13	25352459	25352459	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:25352459A>C	uc001upr.2	+	4	385	c.344A>C	c.(343-345)AAG>ACG	p.K115T	RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K115T|RNF17_uc001ups.2_Missense_Mutation_p.K54T|RNF17_uc001upq.1_Missense_Mutation_p.K115T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	115					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGGACTTTAAGAAGACTGCT	0.269												
RXFP2	122042	broad.mit.edu	37	13	32352709	32352709	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:32352709A>C	uc001utt.2	+	9	845	c.774A>C	c.(772-774)CAA>CAC	p.Q258H	RXFP2_uc010aba.2_Missense_Mutation_p.Q241H	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	258	Extracellular (Potential).|LRR 6.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAATGCCTCAACTCAACTGGG	0.328												
EBPL	84650	broad.mit.edu	37	13	50235114	50235114	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:50235114T>A	uc001vdg.2	-	4	674	c.611A>T	c.(610-612)AAG>ATG	p.K204M	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	emopamil binding related protein, delta8-delta7	204					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity				0		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TCACTGAAACTTCTTCACTGA	0.378												
PCDH17	27253	broad.mit.edu	37	13	58206928	58206928	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:58206928T>C	uc001vhq.1	+	1	1140	c.248T>C	c.(247-249)CTC>CCC	p.L83P	PCDH17_uc010aec.1_Missense_Mutation_p.L83P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	83	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)		GACAGCGGGCTCCTCTACACC	0.667												
COL4A1	1282	broad.mit.edu	37	13	110845208	110845208	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:110845208A>T	uc001vqw.3	-	23	1556	c.1434T>A	c.(1432-1434)CCT>CCA	p.P478P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	478	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGCCCGGGAGGCCCCCGAT	0.488												
ING1	3621	broad.mit.edu	37	13	111367991	111367991	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:111367991T>G	uc001vri.2	+	1	633	c.201T>G	c.(199-201)GGT>GGG	p.G67G	CARS2_uc010tjm.1_5'Flank|uc001vre.2_5'Flank|ING1_uc001vrf.2_Intron|ING1_uc001vrg.2_Intron|ING1_uc001vrh.2_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	67					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTTGGATTGGTTCTTCTCGCT	0.622												
SOX1	6656	broad.mit.edu	37	13	112722352	112722352	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:112722352A>C	uc001vsb.1	+	1	440	c.380A>C	c.(379-381)AAG>ACG	p.K127T		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	127					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGCAAGACCAAGACGCTGCTC	0.507												
C13orf28	122258	broad.mit.edu	37	13	113030765	113030765	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:113030765T>G	uc001vsd.1	+	1	97	c.66T>G	c.(64-66)ACT>ACG	p.T22T		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	22						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					GGCAAGAAACTGAGCTCCGGC	0.597												
ZNF828	283489	broad.mit.edu	37	13	115091308	115091308	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:115091308A>T	uc010ahb.2	+	3	2320	c.1991A>T	c.(1990-1992)GAT>GTT	p.D664V	ZNF828_uc001vuv.2_Missense_Mutation_p.D664V|ZNF828_uc010tko.1_Missense_Mutation_p.D664V	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	664	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		GAATCCATTGATTTTAGCAAA	0.388												
OR4K1	79544	broad.mit.edu	37	14	20404286	20404286	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20404286T>G	uc001vwj.1	+	1	461	c.461T>G	c.(460-462)CTT>CGT	p.L154R		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGGGCGTTCTTCATTCTGTG	0.468												
OR4K17	390436	broad.mit.edu	37	14	20586502	20586502	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20586502T>C	uc001vwo.1	+	1	937	c.937T>C	c.(937-939)TTG>CTG	p.L313L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTCCTATCTTGAATCCAAT	0.363												
OR11G2	390439	broad.mit.edu	37	14	20666008	20666008	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20666008A>C	uc010tlb.1	+	1	514	c.514A>C	c.(514-516)ACC>CCC	p.T172P		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	172	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACGCTATCCAACCATTATGAC	0.448												
TEP1	7011	broad.mit.edu	37	14	20851710	20851710	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20851710A>G	uc001vxe.2	-	26	3844	c.3804T>C	c.(3802-3804)GCT>GCC	p.A1268A	TEP1_uc010ahk.2_Silent_p.A618A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.A1160A|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTAACCTATCAGCCCCATCGA	0.592												
MYH7	4625	broad.mit.edu	37	14	23886389	23886389	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:23886389A>C	uc001wjx.2	-	32	4598	c.4492T>G	c.(4492-4494)TTC>GTC	p.F1498V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1498	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCCGCTTGAAGGTCTCCAGA	0.602												
ADCY4	196883	broad.mit.edu	37	14	24800432	24800432	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:24800432T>A	uc001wov.2	-	5	806	c.800A>T	c.(799-801)AAG>ATG	p.K267M	ADCY4_uc001wow.2_Missense_Mutation_p.K267M|ADCY4_uc010toh.1_Translation_Start_Site|ADCY4_uc001wox.2_Missense_Mutation_p.K267M|ADCY4_uc001woy.2_Missense_Mutation_p.K267M	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	267	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CTGGTGCCTCTTGACATAGAG	0.597												
NYNRIN	57523	broad.mit.edu	37	14	24885594	24885594	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:24885594T>C	uc001wpf.3	+	9	4957	c.4639T>C	c.(4639-4641)TCT>CCT	p.S1547P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1547					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TCTGATTTTCTCTGTGCATGA	0.567												
TRMT5	57570	broad.mit.edu	37	14	61442562	61442562	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:61442562A>C	uc001xff.3	-	4	1166	c.1075T>G	c.(1075-1077)TTC>GTC	p.F359V		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	359						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCTTGGAGGAAGTCTTTCCCA	0.413												
ZFYVE26	23503	broad.mit.edu	37	14	68256223	68256223	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:68256223T>G	uc001xka.2	-	16	2987	c.2848A>C	c.(2848-2850)AGC>CGC	p.S950R	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S950R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	950					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGCCGTGCTTATCCAAAAG	0.562												
LTBP2	4053	broad.mit.edu	37	14	74988674	74988674	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:74988674A>G	uc001xqa.2	-	17	3115	c.2728T>C	c.(2728-2730)TCC>CCC	p.S910P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	910	EGF-like 5; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGAAGCAGGAGTAGGACCCC	0.627												
TTC8	123016	broad.mit.edu	37	14	89305909	89305909	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:89305909A>C	uc010ath.2	+	2	362	c.228A>C	c.(226-228)CAA>CAC	p.Q76H	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.Q76H|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.Q86H|TTC8_uc001xxj.2_Missense_Mutation_p.Q76H|TTC8_uc001xxk.2_Missense_Mutation_p.Q76H	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	86					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						CTATAGCTCAAGTTCCACGTA	0.328									Bardet-Biedl_syndrome			
TDP1	55775	broad.mit.edu	37	14	90499478	90499478	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:90499478A>C	uc001xxy.2	+	16	1972	c.1673A>C	c.(1672-1674)AAG>ACG	p.K558T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.K558T|TDP1_uc010atn.2_Missense_Mutation_p.E573D|TDP1_uc001xya.2_Missense_Mutation_p.K319T|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Intron|TDP1_uc001xyd.1_Missense_Mutation_p.K173T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	558					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTGAAACAGAAGTTCTTCGCT	0.448								Repair_of_DNA-protein_crosslinks				
C14orf102	55051	broad.mit.edu	37	14	90764715	90764715	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:90764715A>G	uc001xyi.1	-	8	1586	c.1555T>C	c.(1555-1557)TTT>CTT	p.F519L	C14orf102_uc010atp.1_Missense_Mutation_p.F24L|C14orf102_uc001xyj.1_Missense_Mutation_p.F288L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	519							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AAGGGTTCAAAGAATTCCACC	0.542												
C14orf159	80017	broad.mit.edu	37	14	91691049	91691049	+	Missense_Mutation	SNP	T	T	G	rs116271183	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:91691049T>G	uc001xzb.2	+	16	2491	c.1723T>G	c.(1723-1725)TTG>GTG	p.L575V	C14orf159_uc001xyx.2_Missense_Mutation_p.L523V|C14orf159_uc001xyw.2_Missense_Mutation_p.L580V|C14orf159_uc001xzc.2_Missense_Mutation_p.L575V|C14orf159_uc001xza.2_Missense_Mutation_p.L580V|C14orf159_uc001xyv.2_Missense_Mutation_p.L540V|C14orf159_uc001xyz.2_Missense_Mutation_p.L451V|C14orf159_uc001xze.2_Missense_Mutation_p.L575V	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	575						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCTGGGCATCTTGGTGCAGCA	0.493												
PPP4R4	57718	broad.mit.edu	37	14	94708198	94708198	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:94708198A>C	uc001ycs.1	+	10	1204	c.1050A>C	c.(1048-1050)CAA>CAC	p.Q350H		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	350						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						GTTTGCAACAAGAAAATGGAC	0.343												
EML1	2009	broad.mit.edu	37	14	100374049	100374049	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:100374049A>C	uc001ygs.2	+	10	1152	c.1083A>C	c.(1081-1083)GAA>GAC	p.E361D	EML1_uc010avt.1_Missense_Mutation_p.E348D|EML1_uc010tww.1_Missense_Mutation_p.E349D|EML1_uc001ygq.2_Missense_Mutation_p.E380D|EML1_uc001ygr.2_Missense_Mutation_p.E380D	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	361	WD 2.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGCAGAAAGAAGAAAAACTAG	0.473												
DYNC1H1	1778	broad.mit.edu	37	14	102476330	102476330	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:102476330A>G	uc001yks.2	+	30	6292	c.6128A>G	c.(6127-6129)AAG>AGG	p.K2043R		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2043	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCCATGACCAAGCCCGACCGG	0.537												
RAGE	5891	broad.mit.edu	37	14	102717178	102717178	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:102717178G>A	uc001ylm.2	-	7	787	c.561C>T	c.(559-561)AGC>AGT	p.S187S	RAGE_uc010txv.1_Silent_p.S157S|RAGE_uc001yln.2_Silent_p.S5S	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	187	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CACAGCCGGCGCTCCACAGGT	0.637												
KIF26A	26153	broad.mit.edu	37	14	104641834	104641834	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:104641834T>C	uc001yos.3	+	12	2709	c.2709T>C	c.(2707-2709)TCT>TCC	p.S903S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	903					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAGGCAGTTCTGGTCCAGACA	0.701												
AHNAK2	113146	broad.mit.edu	37	14	105415965	105415965	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:105415965T>G	uc010axc.1	-	7	5943	c.5823A>C	c.(5821-5823)GAA>GAC	p.E1941D	AHNAK2_uc001ypx.2_Missense_Mutation_p.E1841D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1941						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCTGTCACTTCCGCCTTGG	0.607												
BRF1	2972	broad.mit.edu	37	14	105707653	105707653	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:105707653T>G	uc001yqp.2	-	6	1006	c.643A>C	c.(643-645)AAG>CAG	p.K215Q	BRF1_uc010tyo.1_Missense_Mutation_p.K100Q|BRF1_uc010typ.1_Missense_Mutation_p.K100Q|BRF1_uc001yql.2_Missense_Mutation_p.K11Q|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.K188Q|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_Intron	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	215	2.				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGTCCCGCTTCATCCTCTGT	0.647												
C15orf2	23742	broad.mit.edu	37	15	24923394	24923394	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:24923394A>C	uc001ywo.2	+	1	2854	c.2380A>C	c.(2380-2382)AGC>CGC	p.S794R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	794					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)		TGATTTCCTGAGCCTTCCTAT	0.532												
GABRA5	2558	broad.mit.edu	37	15	27114462	27114462	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:27114462A>G	uc001zbd.1	+	4	406	c.67A>G	c.(67-69)AAC>GAC	p.N23D	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	23					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTCCATGAACTTATCCAG	0.388												
PGBD4	161779	broad.mit.edu	37	15	34395727	34395727	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:34395727A>C	uc001zho.2	+	1	1454	c.995A>C	c.(994-996)AAC>ACC	p.N332T	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	332											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTCCTCGATAACTTTAATATA	0.398												
THBS1	7057	broad.mit.edu	37	15	39885624	39885624	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:39885624T>G	uc001zkh.2	+	19	3201	c.3022T>G	c.(3022-3024)TTC>GTC	p.F1008V	THBS1_uc010bbi.2_Missense_Mutation_p.F480V	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1008	TSP C-terminal.			F -> S (in Ref. 3; BAF84328).	activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCTGTGGACTTCAGTGGCAC	0.473												
LTK	4058	broad.mit.edu	37	15	41796355	41796356	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:41796355_41796356AA>CT	uc001zoa.3	-	20	2611_2612	c.2433_2434TT>AG	c.(2431-2436)TCTTTG>TCAGTG	p.L812V	LTK_uc001zob.3_Missense_Mutation_p.L751V|LTK_uc010ucx.1_Missense_Mutation_p.L682V|LTK_uc010bcg.2_Missense_Mutation_p.L510V	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	812	Cytoplasmic (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGGCACTCCAAAGATCTGTTCC	0.589										TSP Lung(18;0.14)		
EHD4	30844	broad.mit.edu	37	15	42193147	42193147	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:42193147T>C	uc001zot.2	-	6	1385	c.1322A>G	c.(1321-1323)GAG>GGG	p.E441G		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	441					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CACGACCCACTCCTCCTCGTC	0.632												
PLA2G4D	283748	broad.mit.edu	37	15	42373220	42373220	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:42373220A>G	uc001zox.2	-	12	1164	c.1069T>C	c.(1069-1071)TTC>CTC	p.F357L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	357	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATGCCACTGAAGTAGGTCACA	0.622												
CCNDBP1	23582	broad.mit.edu	37	15	43484948	43484948	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:43484948G>T	uc001zqv.2	+	9	1099	c.868G>T	c.(868-870)GAT>TAT	p.D290Y	CCNDBP1_uc001zqu.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010bdc.2_Missense_Mutation_p.D290Y|CCNDBP1_uc010bdb.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010udl.1_Missense_Mutation_p.D129Y|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010bdd.2_Missense_Mutation_p.D162Y|CCNDBP1_uc001zqy.2_Missense_Mutation_p.D162Y	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	290	Interaction with TCF3.|Interaction with RPLP0.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TAGTGTGGATGATTTGGCTCT	0.408												
ATP8B4	79895	broad.mit.edu	37	15	50152626	50152626	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:50152626C>T	uc001zxu.2	-	28	3486	c.3344G>A	c.(3343-3345)AGC>AAC	p.S1115N	ATP8B4_uc010ber.2_Missense_Mutation_p.S988N|ATP8B4_uc010ufd.1_Missense_Mutation_p.S925N|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.S118N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1115	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGGCCTTCGGCTACTTGGAGG	0.507												
TRPM7	54822	broad.mit.edu	37	15	50902127	50902127	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:50902127A>G	uc001zyt.3	-	18	2576	c.2312T>C	c.(2311-2313)ATA>ACA	p.I771T	TRPM7_uc010bew.1_Missense_Mutation_p.I771T|TRPM7_uc001zyu.2_Missense_Mutation_p.I329T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	771	Helical; (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAACAGCAATATGGCAGGTGG	0.318												
DMXL2	23312	broad.mit.edu	37	15	51857327	51857327	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:51857327A>C	uc002abf.2	-	4	547	c.322T>G	c.(322-324)TTT>GTT	p.F108V	DMXL2_uc010ufy.1_Missense_Mutation_p.F108V|DMXL2_uc010bfa.2_Missense_Mutation_p.F108V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	108	WD 1.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GAACTCAAAAAAAACTGCCCA	0.274												
MYO5A	4644	broad.mit.edu	37	15	52667649	52667649	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:52667649T>G	uc002aby.2	-	20	2673	c.2429A>C	c.(2428-2430)AAG>ACG	p.K810T	MYO5A_uc002abx.3_Missense_Mutation_p.K810T|MYO5A_uc010uge.1_Missense_Mutation_p.K679T	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	810	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCGCAGAAACTTAGCATAGCT	0.408												
UNC13C	440279	broad.mit.edu	37	15	54307825	54307825	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:54307825T>A	uc002ack.2	+	1	2725	c.2725T>A	c.(2725-2727)TCA>ACA	p.S909T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	909					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATCACCTTTCATATGAAAC	0.378												
DYX1C1	161582	broad.mit.edu	37	15	55783358	55783358	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:55783358C>T	uc002adc.2	-	4	736	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R123Q|DYX1C1_uc002add.2_Missense_Mutation_p.R123Q	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	123					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTGATCTTCCCGCTTTGCTGC	0.378												
CGNL1	84952	broad.mit.edu	37	15	57743743	57743743	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:57743743A>C	uc002aeg.2	+	5	1925	c.1849A>C	c.(1849-1851)AGC>CGC	p.S617R	CGNL1_uc010bfw.2_Missense_Mutation_p.S617R	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	617	Potential.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAACAGAAAAGCAAGTTGAC	0.219												
LACTB	114294	broad.mit.edu	37	15	63433967	63433967	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63433967A>T	uc002alw.2	+	6	1646	c.1607A>T	c.(1606-1608)AAG>ATG	p.K536M		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	536						mitochondrion	hydrolase activity				0						ACCGCTTTGAAGATTGCCCTT	0.373												
HERC1	8925	broad.mit.edu	37	15	63966564	63966564	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63966564T>C	uc002amp.2	-	38	7971	c.7823A>G	c.(7822-7824)CAG>CGG	p.Q2608R		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2608					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						GCCCCCAAACTGGTCTTCCAA	0.383												
HERC1	8925	broad.mit.edu	37	15	63970195	63970195	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63970195G>A	uc002amp.2	-	37	7067	c.6919C>T	c.(6919-6921)CTG>TTG	p.L2307L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2307					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						ATCACAGCCAGCACGGGCCAC	0.547												
PDCD7	10081	broad.mit.edu	37	15	65412073	65412073	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:65412073T>G	uc002aol.2	-	3	1284	c.1229A>C	c.(1228-1230)AAG>ACG	p.K410T		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	410	Potential.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0						CCCAAACAACTTGGACTCAAT	0.274												
IQCH	64799	broad.mit.edu	37	15	67664882	67664882	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:67664882A>C	uc002aqo.1	+	9	1234	c.1187A>C	c.(1186-1188)AAG>ACG	p.K396T	IQCH_uc010ujv.1_Missense_Mutation_p.K215T|IQCH_uc002aqn.1_Missense_Mutation_p.K223T|IQCH_uc002aqq.1_Missense_Mutation_p.K144T|IQCH_uc002aqp.1_Missense_Mutation_p.K148T	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	396	IQ.									skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CGCCAGCAGAAGTGGGCATCA	0.448												
MAN2C1	4123	broad.mit.edu	37	15	75654237	75654237	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:75654237G>C	uc002baf.2	-	9	1077	c.1060C>G	c.(1060-1062)CAG>GAG	p.Q354E	MAN2C1_uc002bag.2_Missense_Mutation_p.Q354E|MAN2C1_uc002bah.2_Missense_Mutation_p.Q354E|MAN2C1_uc010bkk.2_Missense_Mutation_p.Q255E|MAN2C1_uc010umi.1_Missense_Mutation_p.Q136E|MAN2C1_uc010umj.1_RNA	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	354					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						AAGAAGTTCTGGCCCTGCAAA	0.612												
C15orf27	123591	broad.mit.edu	37	15	76430105	76430105	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:76430105A>C	uc002bbq.2	+	3	251	c.96A>C	c.(94-96)GAA>GAC	p.E32D	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	32						integral to membrane					0						AAGTAGACGAAGAAACCAAGA	0.527												
C15orf26	161502	broad.mit.edu	37	15	81430438	81430438	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:81430438T>G	uc002bgb.2	+	4	466	c.439T>G	c.(439-441)TTT>GTT	p.F147V	C15orf26_uc010blp.1_Missense_Mutation_p.F122V	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	147											0						TGGGCAGGACTTTTGCCTGGG	0.393												
TMC3	342125	broad.mit.edu	37	15	81644103	81644103	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:81644103A>C	uc002bgo.1	-	10	1015	c.1015T>G	c.(1015-1017)TTT>GTT	p.F339V	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.F339V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	339	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						TCCACCACAAAGTAGATGAGA	0.527												
C15orf42	90381	broad.mit.edu	37	15	90126064	90126064	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90126064A>G	uc002boe.2	+	2	802	c.802A>G	c.(802-804)AGT>GGT	p.S268G		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	268					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AAAGCTGTCAAGTGAACCTCA	0.493												
C15orf42	90381	broad.mit.edu	37	15	90143840	90143840	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90143840A>C	uc002boe.2	+	9	2077	c.2077A>C	c.(2077-2079)AGT>CGT	p.S693R		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	693					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCAAGTAAAAAGTAGTCTCTT	0.284												
IQGAP1	8826	broad.mit.edu	37	15	90996483	90996483	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90996483A>G	uc002bpl.1	+	13	1547	c.1446A>G	c.(1444-1446)TCA>TCG	p.S482S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	482					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGAGCAGTTCAGTTACTGGTC	0.458												
IQGAP1	8826	broad.mit.edu	37	15	91017188	91017188	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91017188T>G	uc002bpl.1	+	21	2595	c.2494T>G	c.(2494-2496)TTC>GTC	p.F832V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	832	IQ 3.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCTGCAGTACTTCCGGGACCA	0.453												
BLM	641	broad.mit.edu	37	15	91358484	91358484	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91358484T>G	uc002bpr.2	+	22	4326	c.4229T>G	c.(4228-4230)CTT>CGT	p.L1410R	BLM_uc010uqh.1_Missense_Mutation_p.L1410R|BLM_uc010uqi.1_Missense_Mutation_p.L1035R|BLM_uc010bnx.2_Missense_Mutation_p.L1279R|BLM_uc002bpt.2_Missense_Mutation_p.L385R	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1410					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)			AGACCGTTTCTTAAGCCTTCA	0.418			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
PRC1	9055	broad.mit.edu	37	15	91524205	91524205	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91524205C>T	uc002bqm.2	-	6	888	c.731G>A	c.(730-732)CGA>CAA	p.R244Q	PRC1_uc002bqn.2_Missense_Mutation_p.R244Q|PRC1_uc002bqo.2_Missense_Mutation_p.R244Q|PRC1_uc010uqs.1_Missense_Mutation_p.R203Q|PRC1_uc010uqt.1_3'UTR	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	244	Potential.|Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCAGAGCTCTCGGATTTGAGT	0.498												
SLCO3A1	28232	broad.mit.edu	37	15	92663821	92663821	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:92663821A>G	uc002bqx.2	+	5	1337	c.1136A>G	c.(1135-1137)CAG>CGG	p.Q379R	SLCO3A1_uc002bqy.2_Missense_Mutation_p.Q379R|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.Q321R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	379	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTGGAGCAGCAGTTTAACCTC	0.567												
LRRK1	79705	broad.mit.edu	37	15	101589862	101589862	+	Missense_Mutation	SNP	G	G	A	rs78587240		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:101589862G>A	uc002bwr.2	+	23	3632	c.3313G>A	c.(3313-3315)GAC>AAC	p.D1105N	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1105					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAATCTTCCGACGTGAACTG	0.512												
C16orf42	115939	broad.mit.edu	37	16	1400202	1400202	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:1400202T>G	uc002cll.2	-	4	628	c.560A>C	c.(559-561)AAG>ACG	p.K187T	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	187					rRNA processing						0		Hepatocellular(780;0.0893)				CCATTTAAACTTCCGCAGCAA	0.592												
PKD1	5310	broad.mit.edu	37	16	2159146	2159146	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2159146A>C	uc002cos.1	-	15	6231	c.6022T>G	c.(6022-6024)TTC>GTC	p.F2008V	PKD1_uc002cot.1_Missense_Mutation_p.F2008V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2008	PKD 16.|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						TGCAGCGAGAAGTACCAGGCG	0.687												
DCI	1632	broad.mit.edu	37	16	2290019	2290019	+	Silent	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2290019C>A	uc002cpr.2	-	7	906	c.870G>T	c.(868-870)CTG>CTT	p.L290L	DCI_uc002cps.2_Silent_p.L273L	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	290					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						AGTACATCTGCAGGGACTTCT	0.572												
SRRM2	23524	broad.mit.edu	37	16	2817433	2817433	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2817433A>C	uc002crk.2	+	11	7453	c.6904A>C	c.(6904-6906)ACC>CCC	p.T2302P	SRRM2_uc002crj.1_Missense_Mutation_p.T2206P|SRRM2_uc002crl.1_Missense_Mutation_p.T2302P|SRRM2_uc010bsu.1_Missense_Mutation_p.T2206P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2302	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGGGCCAGAACCCCAGCTGC	0.627												
XYLT1	64131	broad.mit.edu	37	16	17228554	17228554	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:17228554T>G	uc002dfa.2	-	9	1888	c.1803A>C	c.(1801-1803)GAA>GAC	p.E601D		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	601	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TCACCACGGCTTCAAACTTGC	0.547												
ACSM3	6296	broad.mit.edu	37	16	20792440	20792440	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:20792440T>G	uc002dhr.2	+	6	1114	c.927T>G	c.(925-927)ACT>ACG	p.T309T	ACSM3_uc002dhq.2_Silent_p.T309T|ACSM3_uc010vba.1_Silent_p.T338T|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	309					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						TTGAGCCGACTTCTATCTTGC	0.443												
OTOA	146183	broad.mit.edu	37	16	21739716	21739716	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:21739716A>G	uc002djh.2	+	19	2172	c.2171A>G	c.(2170-2172)AAG>AGG	p.K724R	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.K645R|OTOA_uc002dji.2_Missense_Mutation_p.K400R|OTOA_uc010vbk.1_Missense_Mutation_p.K372R	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	738					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CCTGAGCAAAAGGCTGCAGTG	0.602												
UBFD1	56061	broad.mit.edu	37	16	23578341	23578341	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:23578341A>C	uc002dlv.2	+	6	972	c.770A>C	c.(769-771)AAA>ACA	p.K257T		NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	257											0				GBM - Glioblastoma multiforme(48;0.0331)		GGCTCCATAAAAAATGTGGTC	0.483												
ATP2A1	487	broad.mit.edu	37	16	28905544	28905544	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:28905544T>G	uc002dro.1	+	10	1348	c.1164T>G	c.(1162-1164)ACT>ACG	p.T388T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T388T|ATP2A1_uc002drp.1_Silent_p.T263T|ATP2A1_uc010bym.1_RNA	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	388	Interacts with phospholamban 1 (By similarity).|Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCGGCTCCACTTACGCTCCAG	0.582												
TAOK2	9344	broad.mit.edu	37	16	29990301	29990301	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:29990301A>C	uc002dva.1	+	6	1142	c.359A>C	c.(358-360)AAG>ACG	p.K120T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.K120T|TAOK2_uc002dvc.1_Missense_Mutation_p.K120T|TAOK2_uc010bzm.1_Missense_Mutation_p.K120T|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	120	Protein kinase.				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						CCAGTGCACAAGAAACCCCTT	0.562												
TAOK2	9344	broad.mit.edu	37	16	30002181	30002181	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:30002181A>G	uc002dvc.1	+	18	3305	c.2522A>G	c.(2521-2523)AAC>AGC	p.N841S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						GAGCTGCTCAACGCTTACCAG	0.622												
BCKDK	10295	broad.mit.edu	37	16	31121524	31121524	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:31121524A>T	uc002eaw.3	+	6	740	c.424_splice	c.e6-2	p.I142_splice	BCKDK_uc002eav.3_Splice_Site_p.I142_splice|BCKDK_uc010cah.2_Splice_Site|BCKDK_uc010cai.2_Splice_Site_p.I142_splice	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase						branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TGTGACCTGCAGATCAAGGAC	0.617												
ITGAX	3687	broad.mit.edu	37	16	31374579	31374579	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:31374579A>C	uc002ebu.1	+	14	1661	c.1594A>C	c.(1594-1596)AAT>CAT	p.N532H	ITGAX_uc002ebt.2_Missense_Mutation_p.N532H|ITGAX_uc010vfk.1_Missense_Mutation_p.N182H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	532	Potential.|Extracellular (Potential).|FG-GAP 6.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGGGGATGTGAATGGGGACAA	0.622												
ABCC12	94160	broad.mit.edu	37	16	48174827	48174827	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:48174827A>C	uc002efc.1	-	4	774	c.428T>G	c.(427-429)ATT>AGT	p.I143S	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V143G|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	143	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGAATGAGAACTGTCTGTAA	0.527												
NOD2	64127	broad.mit.edu	37	16	50750503	50750503	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:50750503G>A	uc002egm.1	+	5	2573	c.2468G>A	c.(2467-2469)CGC>CAC	p.R823H	NOD2_uc010cbl.1_Missense_Mutation_p.R601H|NOD2_uc010cbm.1_Missense_Mutation_p.R601H|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	823	LRR 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				TTTAGTTTGCGCGATAACAAT	0.408												
SALL1	6299	broad.mit.edu	37	16	51175945	51175945	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:51175945T>G	uc010vgs.1	-	2	219	c.188A>C	c.(187-189)AAG>ACG	p.K63T	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	63					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTACAGTTCTTCTTGTGGAG	0.483												
KIFC3	3801	broad.mit.edu	37	16	57800863	57800863	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:57800863T>A	uc002emp.2	-	10	1450	c.1253A>T	c.(1252-1254)AAC>ATC	p.N418I	KIFC3_uc010vhw.1_Missense_Mutation_p.N316I|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.N279I|KIFC3_uc010vhx.1_Missense_Mutation_p.N279I|KIFC3_uc010cdf.2_Missense_Mutation_p.N279I|KIFC3_uc002emo.3_Missense_Mutation_p.N279I|KIFC3_uc010vhy.1_Missense_Mutation_p.N360I|KIFC3_uc002emq.2_Missense_Mutation_p.N418I|KIFC3_uc010vhz.1_Missense_Mutation_p.N440I|KIFC3_uc002emr.1_Missense_Mutation_p.N195I	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	418	Potential.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				CAGCTCCTGGTTGTTGCTGTT	0.637												
CDH11	1009	broad.mit.edu	37	16	65005898	65005898	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:65005898T>C	uc002eoi.2	-	10	1894	c.1460A>G	c.(1459-1461)AAG>AGG	p.K487R	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K487R|CDH11_uc010vin.1_Missense_Mutation_p.K361R	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	487	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCAAACTTGGGAGCATT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
PLA2G15	23659	broad.mit.edu	37	16	68288856	68288856	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:68288856T>G	uc002evr.2	+	3	402	c.319T>G	c.(319-321)TTT>GTT	p.F107V	PLA2G15_uc010vld.1_Missense_Mutation_p.F107V|PLA2G15_uc010vle.1_Missense_Mutation_p.S54R|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	107					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GGCCACCCAGTTTCCTGATGG	0.542												
HYDIN	54768	broad.mit.edu	37	16	71101268	71101268	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:71101268T>A	uc002ezr.2	-	15	2128	c.2000A>T	c.(1999-2001)CAG>CTG	p.Q667L	HYDIN_uc010cfz.1_Missense_Mutation_p.Q412L|HYDIN_uc002ezv.2_Missense_Mutation_p.Q667L|HYDIN_uc010vmc.1_Missense_Mutation_p.Q684L|HYDIN_uc010vmd.1_Missense_Mutation_p.Q694L|HYDIN_uc002ezw.3_Missense_Mutation_p.Q684L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	667										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTCGTATTTCTGCACAGTGTT	0.532												
TAT	6898	broad.mit.edu	37	16	71606172	71606172	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:71606172T>G	uc002fap.2	-	6	722	c.623A>C	c.(622-624)AAG>ACG	p.K208T		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	208					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)	ACAAGCTGTCTTTTCATCAAT	0.408												
CDH13	1012	broad.mit.edu	37	16	83711957	83711957	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:83711957T>G	uc002fgx.2	+	10	1549	c.1429T>G	c.(1429-1431)TTC>GTC	p.F477V	CDH13_uc010vns.1_Missense_Mutation_p.F524V|CDH13_uc010vnt.1_Missense_Mutation_p.F223V|CDH13_uc010vnu.1_Missense_Mutation_p.F438V	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	477	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGGCCCAGTCTTCTACCCAGA	0.607												
OR1E2	8388	broad.mit.edu	37	17	3336511	3336511	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:3336511A>C	uc010vre.1	-	1	625	c.625T>G	c.(625-627)TTT>GTT	p.F209V		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						CCCATGATAAATATCACCCAT	0.468												
GGT6	124975	broad.mit.edu	37	17	4461803	4461803	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:4461803G>T	uc002fyd.3	-	4	1049	c.989C>A	c.(988-990)TCC>TAC	p.S330Y	GGT6_uc010vsb.1_Missense_Mutation_p.S182Y|GGT6_uc002fyc.3_Missense_Mutation_p.S298Y|GGT6_uc010vsc.1_Missense_Mutation_p.S336Y	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	330	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						GGGCGCCCCGGAGCGCAGGGC	0.692												
DVL2	1856	broad.mit.edu	37	17	7133690	7133690	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7133690T>C	uc002gez.1	-	3	606	c.324A>G	c.(322-324)GCA>GCG	p.A108A	DVL2_uc010vtr.1_Silent_p.A108A|DVL2_uc010vts.1_Silent_p.A10A|DVL2_uc010clz.1_Silent_p.A108A	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	108					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						GCGCCAGTTCTGCCCGAGGCT	0.582												
EIF5A	1984	broad.mit.edu	37	17	7214775	7214775	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7214775A>C	uc010vtv.1	+	4	614	c.377A>C	c.(376-378)AAG>ACG	p.K126T	EIF5A_uc002gfr.2_Missense_Mutation_p.K156T|EIF5A_uc002gft.2_Missense_Mutation_p.K126T|EIF5A_uc002gfu.2_Missense_Mutation_p.K126T	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	126					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						ATTGAGCAGAAGTACGACTGT	0.552												
TP53	7157	broad.mit.edu	37	17	7578446	7578446	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7578446T>A	uc002gim.2	-	5	678	c.484A>T	c.(484-486)ATC>TTC	p.I162F	TP53_uc002gig.1_Missense_Mutation_p.I162F|TP53_uc002gih.2_Missense_Mutation_p.I162F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I30F|TP53_uc010cng.1_Missense_Mutation_p.I30F|TP53_uc002gii.1_Missense_Mutation_p.I30F|TP53_uc010cnh.1_Missense_Mutation_p.I162F|TP53_uc010cni.1_Missense_Mutation_p.I162F|TP53_uc002gij.2_Missense_Mutation_p.I162F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I69F|TP53_uc002gio.2_Missense_Mutation_p.I30F|TP53_uc010vug.1_Missense_Mutation_p.I123F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	162	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> S (in sporadic cancers; somatic mutation).|I -> N (in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I162F(8)|p.0?(7)|p.I162V(5)|p.I162I(4)|p.I162S(4)|p.I162N(3)|p.I162M(3)|p.I162fs*19(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.I162fs*8(1)|p.I162_Y163delIY(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.V157_I162delVRAMAI(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.A161fs*7(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGTAGATGGCCATGGCG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
C17orf68	80169	broad.mit.edu	37	17	8132666	8132666	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:8132666A>C	uc002gkq.3	-	19	3169	c.3110T>G	c.(3109-3111)CTT>CGT	p.L1037R	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	1037					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GAAGAGCTGAAGGCTGAAGAC	0.557												
MYH10	4628	broad.mit.edu	37	17	8526317	8526317	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:8526317T>G	uc002gll.2	-	2	344	c.248A>C	c.(247-249)AAG>ACG	p.K83T	MYH10_uc002glm.2_Missense_Mutation_p.K83T|MYH10_uc010cnx.2_Missense_Mutation_p.K83T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	83	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTTGGAAAACTTAGGTGGGTT	0.398												
MYH8	4626	broad.mit.edu	37	17	10312755	10312755	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10312755A>C	uc002gmm.2	-	16	1833	c.1738T>G	c.(1738-1740)TTC>GTC	p.F580V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	580	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						ATCAGAGAGAAGTGGGCCTCA	0.517									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH1	4619	broad.mit.edu	37	17	10399818	10399818	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10399818A>C	uc002gmo.2	-	34	4799	c.4705T>G	c.(4705-4707)TTG>GTG	p.L1569V	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1569	Potential.			L -> V (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						ACTTGGTTCAACTCAAGCTGG	0.413												
MYH2	4620	broad.mit.edu	37	17	10430318	10430318	+	Silent	SNP	T	T	C	rs1139442		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10430318T>C	uc010coi.2	-	29	4055	c.3927A>G	c.(3925-3927)AGA>AGG	p.R1309R	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1309R|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1309	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTTGTTTGCCTCTTGATAACT	0.373												
MYH2	4620	broad.mit.edu	37	17	10446197	10446197	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10446197A>C	uc010coi.2	-	10	1027	c.899T>G	c.(898-900)CTT>CGT	p.L300R	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L300R|MYH2_uc010coj.2_Missense_Mutation_p.L300R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	300	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTTACCAATAAGTTCTGGTTT	0.348												
MYH3	4621	broad.mit.edu	37	17	10543950	10543950	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10543950T>G	uc002gmq.1	-	19	2296	c.2219A>C	c.(2218-2220)AAG>ACG	p.K740T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	740	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ACAGGCTTTCTTGCTGTCAAT	0.284												
DNAH9	1770	broad.mit.edu	37	17	11827151	11827151	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:11827151T>G	uc002gne.2	+	62	11838	c.11770T>G	c.(11770-11772)TTC>GTC	p.F3924V	DNAH9_uc010coo.2_Missense_Mutation_p.F3218V|DNAH9_uc002gnf.2_Missense_Mutation_p.F236V|DNAH9_uc010vvh.1_Missense_Mutation_p.F277V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3924	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGATACACCTTCAACAATCA	0.458												
TNFRSF13B	23495	broad.mit.edu	37	17	16852058	16852058	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:16852058T>C	uc002gqs.1	-	3	452	c.439A>G	c.(439-441)AGT>GGT	p.S147G	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S101G|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.S147G	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	147	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						TTACCTGGACTTGCTTCTGAG	0.552									IgA_Deficiency_Selective			
ULK2	9706	broad.mit.edu	37	17	19705149	19705149	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:19705149T>C	uc002gwm.3	-	16	1891	c.1382A>G	c.(1381-1383)CAG>CGG	p.Q461R	ULK2_uc002gwn.2_Missense_Mutation_p.Q461R	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	461					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCCAACTGTCTGTGCTGTGTC	0.498												
KIAA0100	9703	broad.mit.edu	37	17	26943707	26943707	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:26943707A>T	uc002hbu.2	-	35	6185	c.6086T>A	c.(6085-6087)TTC>TAC	p.F2029Y	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.F358Y	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2029						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCCAGGAAAGAAAAAGCCCAT	0.443												
CCL3	6348	broad.mit.edu	37	17	34416541	34416541	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:34416541T>G	uc002hkv.2	-	2	278	c.176A>C	c.(175-177)AAG>ACG	p.K59T		NM_002983	NP_002974	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	59					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACACCGGGCTTGGAGCACTG	0.582												
SRCIN1	80725	broad.mit.edu	37	17	36708201	36708201	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:36708201A>C	uc002hqd.2	-	14	2873	c.2648T>G	c.(2647-2649)CTT>CGT	p.L883R	SRCIN1_uc002hqf.1_Missense_Mutation_p.L755R|SRCIN1_uc002hqe.2_Missense_Mutation_p.L737R|SRCIN1_uc002hqg.2_Missense_Mutation_p.L189R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	755					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						CTTGGGGGTAAGAGAGGCTCC	0.612												
CDK12	51755	broad.mit.edu	37	17	37667858	37667858	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:37667858C>T	uc010cvv.2	+	8	3329	c.2743C>T	c.(2743-2745)CCA>TCA	p.P915S	CDK12_uc010wef.1_Missense_Mutation_p.P914S|CDK12_uc002hrw.3_Missense_Mutation_p.P915S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	915	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ACGTTACACACCAGCCATAGA	0.393										TCGA Ovarian(9;0.13)		
GSDMA	284110	broad.mit.edu	37	17	38130640	38130640	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:38130640T>G	uc002htl.1	+	9	984	c.866T>G	c.(865-867)CTT>CGT	p.L289R	GSDMA_uc002htm.1_Missense_Mutation_p.L289R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	289					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CTCAGCAAACTTCTAGGGAAG	0.512												
KRT222	125113	broad.mit.edu	37	17	38816273	38816273	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:38816273T>C	uc002hvc.2	-	3	477	c.412A>G	c.(412-414)ACT>GCT	p.T138A	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.T98A|KRT222_uc010cxc.2_Missense_Mutation_p.T98A	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	138	Potential.					intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TGGCGATAAGTTGCTATTTCT	0.433												
KRT34	3885	broad.mit.edu	37	17	39537321	39537321	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:39537321T>G	uc002hwm.2	-	3	713	c.701A>C	c.(700-702)AAG>ACG	p.K234T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	234	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CTCATGGTTCTTCTTCAAGCA	0.512												
NT5C3L	115024	broad.mit.edu	37	17	39987098	39987098	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:39987098T>C	uc002hyc.3	-	6	470	c.461A>G	c.(460-462)AAG>AGG	p.K154R	NT5C3L_uc002hxx.3_Missense_Mutation_p.K19R|NT5C3L_uc010wfu.1_Missense_Mutation_p.K19R|NT5C3L_uc002hyb.3_Missense_Mutation_p.K77R|NT5C3L_uc002hyd.3_Missense_Mutation_p.K77R|NT5C3L_uc002hxy.3_Missense_Mutation_p.K112R|NT5C3L_uc002hxz.3_Missense_Mutation_p.K77R|NT5C3L_uc002hya.3_Missense_Mutation_p.K112R	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	5'-nucleotidase, cytosolic III-like	120						cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TATCTGAAACTTCTGAATCTT	0.408												
DHX58	79132	broad.mit.edu	37	17	40257153	40257153	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40257153T>C	uc002hyw.3	-	10	1507	c.1284A>G	c.(1282-1284)CAA>CAG	p.Q428Q	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.Q421Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	428	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGTTCCATCTTGGAACTTCT	0.582												
KCNH4	23415	broad.mit.edu	37	17	40314288	40314288	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40314288T>G	uc002hzb.2	-	15	2969	c.2636A>C	c.(2635-2637)AAG>ACG	p.K879T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	879	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGGCAAACCTTTTCCTTCAC	0.502												
WNK4	65266	broad.mit.edu	37	17	40936492	40936492	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40936492C>T	uc002ibj.2	+	4	1086	c.1065C>T	c.(1063-1065)GCC>GCT	p.A355A	WNK4_uc010wgx.1_Missense_Mutation_p.P49L|WNK4_uc002ibk.1_Silent_p.A127A|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	355	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACGATGAGGCCGTGGACGTGT	0.592												
CD300LG	146894	broad.mit.edu	37	17	41926086	41926086	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:41926086A>C	uc002iem.2	+	2	245	c.204A>C	c.(202-204)GAA>GAC	p.E68D	CD300LG_uc002iek.1_Missense_Mutation_p.E68D|CD300LG_uc002iel.1_Missense_Mutation_p.E68D|CD300LG_uc010czk.2_Missense_Mutation_p.E68D|CD300LG_uc010wil.1_Missense_Mutation_p.E68D|CD300LG_uc010czl.2_Missense_Mutation_p.E68D	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	68	Extracellular (Potential).|Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTATGCAGAAGAAGAAGGCC	0.587												
DBF4B	80174	broad.mit.edu	37	17	42809588	42809588	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:42809588C>T	uc002ihf.2	+	6	724	c.511C>T	c.(511-513)CTG>TTG	p.L171L	DBF4B_uc002ihd.1_3'UTR|DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Intron|DBF4B_uc010wjc.1_Silent_p.L155L|DBF4B_uc002ihg.2_3'UTR	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	171					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CAGCAGCCTCCTGACCAATGC	0.567												
HOXB2	3212	broad.mit.edu	37	17	46620515	46620515	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:46620515G>C	uc002inm.2	-	2	1106	c.986C>G	c.(985-987)TCT>TGT	p.S329C		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	329					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGTCGAGAGAACCCTGTAG	0.582												
SPAG9	9043	broad.mit.edu	37	17	49048213	49048213	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49048213T>C	uc002itc.2	-	29	3914	c.3705A>G	c.(3703-3705)CAA>CAG	p.Q1235Q	SPAG9_uc002itb.2_Silent_p.Q1221Q|SPAG9_uc002itd.2_Silent_p.Q1225Q|SPAG9_uc002ita.2_Silent_p.Q1091Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1235					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGCTGATGACTTGACCTGTTT	0.413												
MBTD1	54799	broad.mit.edu	37	17	49281253	49281253	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49281253T>C	uc002itr.3	-	8	982	c.638A>G	c.(637-639)GAA>GGA	p.E213G	MBTD1_uc002itp.3_Missense_Mutation_p.E49G|MBTD1_uc002itq.3_Missense_Mutation_p.E213G	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGAGTCATTTTCAAATCCTTC	0.368												
CA10	56934	broad.mit.edu	37	17	49710922	49710923	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49710922_49710923GT>TG	uc002itw.3	-	8	1864_1865	c.878_879AC>CA	c.(877-879)AAC>ACA	p.N293T	CA10_uc002itu.3_Missense_Mutation_p.N222T|CA10_uc002itv.3_Missense_Mutation_p.N299T|CA10_uc002itx.3_Missense_Mutation_p.N293T|CA10_uc002ity.3_Missense_Mutation_p.N293T|CA10_uc002itz.2_Missense_Mutation_p.N293T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	293					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGCAGCGGTTGTTGAGTGGCTG	0.525												
TMEM100	55273	broad.mit.edu	37	17	53798348	53798348	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:53798348T>G	uc002iuj.3	-	2	395	c.84A>C	c.(82-84)GAA>GAC	p.E28D	TMEM100_uc002iuk.3_Missense_Mutation_p.E28D	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	28						integral to membrane					0						TGATCACAACTTCACTCTTGG	0.542												
ANKFN1	162282	broad.mit.edu	37	17	54535229	54535229	+	Silent	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:54535229T>A	uc002iun.1	+	13	1490	c.1455T>A	c.(1453-1455)TCT>TCA	p.S485S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	485										large_intestine(1)|ovary(1)	2						TGCAGCTGTCTTGTATGTGGG	0.473												
CUEDC1	404093	broad.mit.edu	37	17	55962851	55962851	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:55962851T>C	uc002ivd.1	-	2	794	c.75A>G	c.(73-75)GGA>GGG	p.G25G	CUEDC1_uc002ive.1_Silent_p.G25G	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	25										skin(2)	2						cggccgtgcctcccccgcccc	0.448												
EPX	8288	broad.mit.edu	37	17	56281627	56281627	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:56281627A>T	uc002ivq.2	+	12	2077	c.1991A>T	c.(1990-1992)AAG>ATG	p.K664M		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	664					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						AGACAGCGCAAGGCCCTGAGC	0.478												
PPM1E	22843	broad.mit.edu	37	17	57033078	57033078	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:57033078T>C	uc002iwx.2	+	2	660	c.533T>C	c.(532-534)CTT>CCT	p.L178P	PPM1E_uc010ddd.2_Missense_Mutation_p.F8L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	187					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAGAGTGATCTTTCTGCACAT	0.393												
USP32	84669	broad.mit.edu	37	17	58288813	58288813	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:58288813T>C	uc002iyo.1	-	20	2528	c.2242A>G	c.(2242-2244)AGC>GGC	p.S748G	USP32_uc002iyn.1_Missense_Mutation_p.S418G	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	748					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CACTGGATGCTTGAGTTCATG	0.438												
SLC39A11	201266	broad.mit.edu	37	17	70643739	70643739	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:70643739T>C	uc002jjb.2	-	10	1128	c.1013A>G	c.(1012-1014)GAC>GGC	p.D338G	SLC39A11_uc002jja.2_Missense_Mutation_p.D331G	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	338	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAGGCCAACGTCCAGTGACAT	0.512												
TTYH2	94015	broad.mit.edu	37	17	72218654	72218654	+	Missense_Mutation	SNP	G	G	A	rs142378984		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72218654G>A	uc002jkc.2	+	2	191	c.160G>A	c.(160-162)GTC>ATC	p.V54I	TTYH2_uc010wqw.1_Missense_Mutation_p.V33I	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	54	Helical; Name=1; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						GGTGGCCGCCGTCTGCCTGGG	0.637												
CD300C	10871	broad.mit.edu	37	17	72539080	72539080	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72539080T>G	uc002jky.1	-	3	808	c.447A>C	c.(445-447)TCA>TCC	p.S149S		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	149	Pro-rich.|Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						TGGGAGGACCTGAGGTGCCCA	0.632												
C17orf77	146723	broad.mit.edu	37	17	72588570	72588570	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72588570T>G	uc002jla.1	+	3	747	c.385T>G	c.(385-387)TTT>GTT	p.F129V	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	129	Cys-rich.					extracellular region					0						GTGCCCAAACTTTTGTGCATG	0.463												
SAP30BP	29115	broad.mit.edu	37	17	73699940	73699940	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:73699940G>A	uc002jpe.2	+	8	655	c.601_splice	c.e8+1	p.A201_splice	SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.A185_splice	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGGCATTAGGTAGCCTTTCG	0.423												
UNK	85451	broad.mit.edu	37	17	73805920	73805920	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:73805920T>C	uc002jpm.2	+	3	412	c.412T>C	c.(412-414)TTC>CTC	p.F138L		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	62							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACACCTGCTTCCACTGGCA	0.602												
UBE2O	63893	broad.mit.edu	37	17	74391894	74391894	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:74391894T>C	uc002jrm.3	-	15	2923	c.2858A>G	c.(2857-2859)AAG>AGG	p.K953R	UBE2O_uc002jrn.3_3'UTR|UBE2O_uc002jrl.3_Missense_Mutation_p.K557R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	953							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GCTGAAGAACTTCTTGGCTTC	0.502												
CCDC40	55036	broad.mit.edu	37	17	78055422	78055422	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:78055422A>G	uc010dht.2	+	11	1667	c.1640A>G	c.(1639-1641)AAG>AGG	p.K547R	CCDC40_uc002jxm.3_Missense_Mutation_p.K330R|CCDC40_uc002jxn.3_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	547	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAAGAAAAGAACGAGAAG	0.557												
TSPAN10	83882	broad.mit.edu	37	17	79612482	79612483	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79612482_79612483GG>AT	uc010die.2	+	2	591_592	c.501_502GG>AT	c.(499-504)GCGGGG>GCATGG	p.G168W	TSPAN10_uc002kaw.1_Missense_Mutation_p.G168W|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	168	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGGCCGTGGCGGGGGCCCTGGT	0.673												
P4HB	5034	broad.mit.edu	37	17	79804384	79804384	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79804384T>C	uc002kbn.1	-	7	1174	c.977A>G	c.(976-978)AAG>AGG	p.K326R	P4HB_uc002kbl.1_Missense_Mutation_p.K3R|P4HB_uc002kbm.1_Missense_Mutation_p.K3R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	326					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GGGCTTGTACTTGGTCATCTC	0.617												
RAC3	5881	broad.mit.edu	37	17	79991331	79991331	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79991331C>T	uc002kdf.2	+	5	410	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	102					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCGGAGGTGCGGCACCACTG	0.667												
SMCHD1	23347	broad.mit.edu	37	18	2718418	2718418	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:2718418A>C	uc002klm.3	+	19	2633	c.2444A>C	c.(2443-2445)AAG>ACG	p.K815T	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	815					chromosome organization		ATP binding				0						AAAGCAATTAAGTTTTCTGTT	0.308												
EMILIN2	84034	broad.mit.edu	37	18	2892320	2892320	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:2892320A>C	uc002kln.2	+	4	2354	c.2195A>C	c.(2194-2196)AAG>ACG	p.K732T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	732					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		GGGCTCAACAAGCATGTCAGC	0.517												
CEP192	55125	broad.mit.edu	37	18	13116434	13116434	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:13116434C>T	uc010xac.1	+	43	7428	c.7348C>T	c.(7348-7350)CCG>TCG	p.P2450S	CEP192_uc010xad.1_Missense_Mutation_p.P1975S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.P873S|CEP192_uc002krw.2_Missense_Mutation_p.P600S|CEP192_uc002krx.2_Missense_Mutation_p.P454S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2450										ovary(4)|pancreas(1)	5						CAGGTTCCGGCCGACTAGTGT	0.423												
C18orf8	29919	broad.mit.edu	37	18	21099083	21099083	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:21099083A>T	uc010xax.1	+	9	915	c.794A>T	c.(793-795)AAG>ATG	p.K265M	C18orf8_uc010xau.1_Missense_Mutation_p.K108M|C18orf8_uc010xav.1_Missense_Mutation_p.K217M|C18orf8_uc010xaw.1_Missense_Mutation_p.K108M|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	265										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGACGGGAAAGTTTGCCCTG	0.418												
LAMA3	3909	broad.mit.edu	37	18	21343437	21343437	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:21343437T>G	uc002kuq.2	+	8	1218	c.1132T>G	c.(1132-1134)TTG>GTG	p.L378V	LAMA3_uc010dlv.1_Missense_Mutation_p.L378V|LAMA3_uc002kur.2_Missense_Mutation_p.L378V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	378	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGCAAGCTTGAATACCCA	0.458												
DTNA	1837	broad.mit.edu	37	18	32443968	32443968	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32443968T>C	uc010dmn.1	+	16	1605	c.1604T>C	c.(1603-1605)CTC>CCC	p.L535P	DTNA_uc010xbx.1_Missense_Mutation_p.L285P|DTNA_uc002kxv.3_Missense_Mutation_p.L478P|DTNA_uc002kxw.2_Missense_Mutation_p.L478P|DTNA_uc010dmj.2_Missense_Mutation_p.L475P|DTNA_uc002kxz.2_Missense_Mutation_p.L475P|DTNA_uc002kxy.2_Missense_Mutation_p.L475P|DTNA_uc010dml.2_Missense_Mutation_p.L475P|DTNA_uc002kyb.3_Missense_Mutation_p.L532P|DTNA_uc010dmm.2_Missense_Mutation_p.L535P|DTNA_uc010xby.1_Missense_Mutation_p.L225P|DTNA_uc010dmo.2_Missense_Mutation_p.S156P|DTNA_uc002kyd.3_Missense_Mutation_p.L157P|DTNA_uc010xbz.1_Missense_Mutation_p.L244P|DTNA_uc010xca.1_Missense_Mutation_p.L187P|DTNA_uc002kye.2_Missense_Mutation_p.L183P	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	535	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						ATGTCTGCTCTCCAGGAGAGC	0.468												
MAPRE2	10982	broad.mit.edu	37	18	32706939	32706939	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32706939A>C	uc002kyg.2	+	5	818	c.638A>C	c.(637-639)AAA>ACA	p.K213T	MAPRE2_uc010xcb.1_Missense_Mutation_p.K170T|MAPRE2_uc010xcc.1_Missense_Mutation_p.K201T|MAPRE2_uc002kyf.2_Missense_Mutation_p.K213T|MAPRE2_uc002kyh.2_Missense_Mutation_p.K160T|MAPRE2_uc010xcd.1_Missense_Mutation_p.K170T	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	213	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						CCAGCAGCTAAACCAGGATCC	0.403												
MAPRE2	10982	broad.mit.edu	37	18	32712012	32712012	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32712012T>G	uc002kyg.2	+	6	947	c.767T>G	c.(766-768)CTT>CGT	p.L256R	MAPRE2_uc010xcb.1_Missense_Mutation_p.L213R|MAPRE2_uc010xcc.1_Missense_Mutation_p.L244R|MAPRE2_uc002kyh.2_Missense_Mutation_p.L203R|MAPRE2_uc010xcd.1_Missense_Mutation_p.L213R	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	256	DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						TCATTAAAACTTGCCCTTGAA	0.423												
SYT4	6860	broad.mit.edu	37	18	40854220	40854220	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:40854220C>T	uc002law.2	-	2	543	c.174G>A	c.(172-174)AAG>AAA	p.K58K	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.K40K|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	58	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TATCAACTCCCTTAAGCACAT	0.393												
SETBP1	26040	broad.mit.edu	37	18	42531398	42531398	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:42531398C>A	uc010dni.2	+	4	2389	c.2093C>A	c.(2092-2094)ACC>AAC	p.T698N		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	698						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCCAGAGACCAGCCCTGGG	0.498									Schinzel-Giedion_syndrome			
SETBP1	26040	broad.mit.edu	37	18	42618511	42618511	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:42618511A>C	uc010dni.2	+	5	4358	c.4062A>C	c.(4060-4062)TCA>TCC	p.S1354S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1354						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACGAAGGCTCAGTGCCCACCA	0.488									Schinzel-Giedion_syndrome			
CCDC11	220136	broad.mit.edu	37	18	47769287	47769287	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:47769287A>C	uc002lee.2	-	6	1287	c.1196T>G	c.(1195-1197)CTT>CGT	p.L399R		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	399	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGAACTTGAAGTTTTCTTGT	0.373												
ME2	4200	broad.mit.edu	37	18	48443784	48443784	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:48443784T>G	uc002ley.2	+	6	792	c.536T>G	c.(535-537)ATT>AGT	p.I179S	ME2_uc010dpd.2_Missense_Mutation_p.I179S	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	179					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GGAATGGGAATTCCAGTAGGA	0.408												
SERPINB12	89777	broad.mit.edu	37	18	61234015	61234015	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:61234015T>G	uc010xen.1	+	7	989	c.989T>G	c.(988-990)CTT>CGT	p.L330R	SERPINB12_uc010xeo.1_Missense_Mutation_p.L350R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	330					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						AGGGCTGATCTTACTGGAATC	0.458												
FBXO15	201456	broad.mit.edu	37	18	71797672	71797672	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:71797672A>C	uc002lle.2	-	4	662	c.326T>G	c.(325-327)GTT>GGT	p.V109G	FBXO15_uc002llf.2_Missense_Mutation_p.V185G	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	109										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTGGTCTTAACTGGAAGGCC	0.428												
SALL3	27164	broad.mit.edu	37	18	76753954	76753954	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:76753954T>C	uc002lmt.2	+	2	1963	c.1963T>C	c.(1963-1965)TCG>CCG	p.S655P	SALL3_uc010dra.2_Missense_Mutation_p.S262P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGCTAGACTCGATGCAAAC	0.642												
TICAM1	148022	broad.mit.edu	37	19	4818198	4818198	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:4818198C>T	uc002mbi.2	-	2	443	c.192G>A	c.(190-192)TTG>TTA	p.L64L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	64					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATCGGCCTTCAATGCCTCTA	0.677												
EMR1	2015	broad.mit.edu	37	19	6921819	6921819	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:6921819T>C	uc002mfw.2	+	14	1754	c.1716T>C	c.(1714-1716)GCT>GCC	p.A572A	EMR1_uc010dvc.2_Silent_p.A572A|EMR1_uc010dvb.2_Silent_p.A520A|EMR1_uc010xji.1_Silent_p.A431A|EMR1_uc010xjj.1_Silent_p.A395A	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	572	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCCTGGAAGCTTCTGAGACAT	0.488												
LRRC8E	80131	broad.mit.edu	37	19	7963820	7963820	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:7963820A>G	uc002mir.2	+	3	514	c.413A>G	c.(412-414)AAG>AGG	p.K138R		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	138						integral to membrane				lung(1)|pancreas(1)	2						TTCTGGTTCAAGTTCCCTGGC	0.532												
MUC16	94025	broad.mit.edu	37	19	8999559	8999559	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:8999559T>G	uc002mkp.2	-	56	40820	c.40616A>C	c.(40615-40617)AAG>ACG	p.K13539T	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K356T|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCATCCTTCTTGGGCCTGGG	0.592												
MUC16	94025	broad.mit.edu	37	19	9070034	9070034	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9070034T>C	uc002mkp.2	-	3	17616	c.17412A>G	c.(17410-17412)TCA>TCG	p.S5804S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5806	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGCACTTCTGAAAGGACAG	0.473												
MUC16	94025	broad.mit.edu	37	19	9074873	9074873	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9074873T>G	uc002mkp.2	-	3	12777	c.12573A>C	c.(12571-12573)TCA>TCC	p.S4191S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4193	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACAAGAAAACTGAGGTCACAG	0.502												
MUC16	94025	broad.mit.edu	37	19	9084689	9084689	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9084689T>C	uc002mkp.2	-	1	7330	c.7126A>G	c.(7126-7128)ACC>GCC	p.T2376A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2376	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTATGGAGGTGTTGATCAGA	0.443												
MUC16	94025	broad.mit.edu	37	19	9085876	9085876	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9085876A>C	uc002mkp.2	-	1	6143	c.5939T>G	c.(5938-5940)ATT>AGT	p.I1980S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1980	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGACTGTTCAATTGTGCCTGT	0.463												
OR7E24	26648	broad.mit.edu	37	19	9362093	9362093	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9362093T>G	uc002mlb.1	+	1	374	c.374T>G	c.(373-375)TTT>TGT	p.F125C		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTTGTCCTTTTTGCATGTATG	0.507												
AP1M2	10053	broad.mit.edu	37	19	10685617	10685617	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:10685617T>C	uc002mpc.2	-	10	1220	c.1136A>G	c.(1135-1137)AAG>AGG	p.K379R	AP1M2_uc002mpd.2_Missense_Mutation_p.K381R	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	379	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GATCTCAAACTTGACCCCGAT	0.607												
CCDC159	126075	broad.mit.edu	37	19	11460642	11460642	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11460642C>T	uc010xlw.1	+	4	412	c.333C>T	c.(331-333)TCC>TCT	p.S111S	CCDC159_uc010xlr.1_Silent_p.S28S|CCDC159_uc010xls.1_Silent_p.S28S|CCDC159_uc010xlt.1_Silent_p.S28S|CCDC159_uc010xlu.1_Silent_p.S27S|CCDC159_uc010xlv.1_Silent_p.S27S	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	143										ovary(1)	1						TTCCCGACTCCCAGAAGCTCC	0.592												
ZNF491	126069	broad.mit.edu	37	19	11917360	11917360	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11917360T>G	uc002mso.1	+	3	877	c.592T>G	c.(592-594)TTT>GTT	p.F198V		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	198	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATCATTCAATTTTTCCAGTTC	0.433												
ZNF491	126069	broad.mit.edu	37	19	11917993	11917993	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11917993A>C	uc002mso.1	+	3	1510	c.1225A>C	c.(1225-1227)AAA>CAA	p.K409Q		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CACTGGAGAGAAACCTTACCA	0.368												
MAST1	22983	broad.mit.edu	37	19	12979894	12979894	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:12979894A>C	uc002mvm.2	+	22	2916	c.2788A>C	c.(2788-2790)AGT>CGT	p.S930R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	930					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCCACATGGAAGTTCACCCCT	0.552												
SYCE2	256126	broad.mit.edu	37	19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:13015434A>C	uc002mvr.2	-	3	193	c.178T>G	c.(178-180)TTC>GTC	p.F60V		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					cell division	central element					0						AGAGAGGAGAAGTAGAGTCCC	0.537												
ZNF461	92283	broad.mit.edu	37	19	37130036	37130036	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:37130036T>C	uc002oem.2	-	6	1439	c.1211A>G	c.(1210-1212)CAG>CGG	p.Q404R	ZNF461_uc002oen.2_Missense_Mutation_p.Q373R|ZNF461_uc010xtj.1_Missense_Mutation_p.Q381R	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	404	C2H2-type 7.				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)			ATGAATTTTCTGATGGTGTGA	0.408												
ZNF781	163115	broad.mit.edu	37	19	38160980	38160980	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:38160980G>C	uc002ogy.2	-	4	812	c.70C>G	c.(70-72)CAA>GAA	p.Q24E	ZNF781_uc002ogz.2_Missense_Mutation_p.Q19E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACTTATTTGATATTGAGTT	0.353												
TMEM145	284339	broad.mit.edu	37	19	42822014	42822014	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:42822014T>C	uc002otk.1	+	12	1106	c.1054T>C	c.(1054-1056)TTT>CTT	p.F352L		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	352	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				TGTGCCCTTCTTTGCTGCCTA	0.587												
PSG1	5669	broad.mit.edu	37	19	43376021	43376021	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:43376021A>C	uc002ovb.2	-	3	745	c.607T>G	c.(607-609)TTT>GTT	p.F203V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.F203V|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.F203V|PSG1_uc010eio.1_Missense_Mutation_p.F203V|PSG1_uc002oux.1_Missense_Mutation_p.F132V|PSG1_uc002ouy.1_Missense_Mutation_p.F203V|PSG1_uc002ouz.1_Missense_Mutation_p.F203V|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.F203V	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	203	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CCCAATAGAAAGAGGGTCCTG	0.522												
ZNF45	7596	broad.mit.edu	37	19	44418060	44418060	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:44418060T>C	uc002oxu.1	-	4	1627	c.1528A>G	c.(1528-1530)AGT>GGT	p.S510G	ZNF45_uc002oxw.1_Missense_Mutation_p.S510G|ZNF45_uc002oxv.1_Missense_Mutation_p.S510G	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	510	C2H2-type 13.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAGAACTGACTGAAGGCCTTA	0.493												
ZNF235	9310	broad.mit.edu	37	19	44792778	44792778	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:44792778T>G	uc002oza.3	-	5	913	c.810A>C	c.(808-810)GAA>GAC	p.E270D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.E266D|ZNF235_uc010xwx.1_Missense_Mutation_p.E184D	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	270	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CATTGAAGGCTTCTTCACATT	0.428												
SNRPD2	6633	broad.mit.edu	37	19	46190914	46190914	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46190914T>C	uc002pcw.2	-	3	551	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SNRPD2_uc002pcv.2_Missense_Mutation_p.K75R	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	85					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTTGGACTTCTTCTTGCCCTT	0.587												
SYMPK	8189	broad.mit.edu	37	19	46355623	46355623	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46355623T>G	uc002pdn.2	-	5	491	c.246A>C	c.(244-246)GCA>GCC	p.A82A	SYMPK_uc002pdo.1_Silent_p.A82A|SYMPK_uc002pdp.1_Silent_p.A82A|SYMPK_uc002pdq.1_Silent_p.A82A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	82	Interaction with HSF1.				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)		TTGACTTGTCTGCTTGGAATG	0.537												
CCDC61	729440	broad.mit.edu	37	19	46506709	46506709	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46506709T>C	uc002pdw.2	+	4	352	c.352T>C	c.(352-354)TTC>CTC	p.F118L		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GACAGGGAACTTCAAACAGTT	0.562												
PNMAL2	57469	broad.mit.edu	37	19	46998655	46998655	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46998655A>G	uc002pes.2	-	1	515	c.68T>C	c.(67-69)GTC>GCC	p.V23A	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	23										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)		gatgccggtgaccagcagggc	0.104												
CCDC9	26093	broad.mit.edu	37	19	47769965	47769965	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:47769965A>T	uc010xym.1	+	8	1025	c.818A>T	c.(817-819)AAG>ATG	p.K273M		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	273											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGAGGGAGAAGATCGACCAG	0.672												
CCDC114	93233	broad.mit.edu	37	19	48806918	48806918	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:48806918T>G	uc002pir.2	-	8	1549	c.866A>C	c.(865-867)AAG>ACG	p.K289T	CCDC114_uc002piq.2_Missense_Mutation_p.K98T|CCDC114_uc002pio.2_Missense_Mutation_p.K326T|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.K326T|CCDC114_uc002piu.1_Missense_Mutation_p.K326T	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	289										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)		CTCCAGATACTTCTGCACCAA	0.647												
KCNA7	3743	broad.mit.edu	37	19	49573431	49573431	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:49573431A>T	uc002pmg.2	-	2	1616	c.1260T>A	c.(1258-1260)CCT>CCA	p.P420P		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	420						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GTGGGCCACAAGGCTGCATGT	0.607												
ZNF473	25888	broad.mit.edu	37	19	50549984	50549984	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:50549984G>A	uc002prn.2	+	5	2521	c.2284G>A	c.(2284-2286)GAA>AAA	p.E762K	ZNF473_uc002prm.2_Missense_Mutation_p.E762K|ZNF473_uc010ybo.1_Missense_Mutation_p.E750K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	762	C2H2-type 17.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTTGTCAGGAATGCGGGAA	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYT3	84258	broad.mit.edu	37	19	51133141	51133141	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:51133141A>G	uc002pst.2	-	3	1596	c.962T>C	c.(961-963)CTG>CCG	p.L321P	SYT3_uc002psv.2_Missense_Mutation_p.L321P|SYT3_uc010ycd.1_Missense_Mutation_p.L321P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	321	C2 1.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGGCCTGCAGGATCCTCAC	0.617												
C19orf75	284369	broad.mit.edu	37	19	51768881	51768881	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:51768881T>G	uc002pwb.1	+	3	663	c.282T>G	c.(280-282)GCT>GCG	p.A94A	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	94						integral to membrane				ovary(1)|pancreas(1)	2						GAACCCATGCTTTGAGCATCC	0.552												
SIGLEC6	946	broad.mit.edu	37	19	52033695	52033695	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:52033695G>A	uc002pwy.2	-	4	912	c.750C>T	c.(748-750)AGC>AGT	p.S250S	SIGLEC6_uc002pwz.2_Intron|SIGLEC6_uc002pxa.2_Silent_p.S250S|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.S250S|SIGLEC6_uc010eoz.1_Silent_p.S228S|SIGLEC6_uc010epb.1_Silent_p.S203S|SIGLEC6_uc010epa.1_Silent_p.S239S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	250	Ig-like C2-type 2.|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)		TCCTACCTGCGCTGTTTCCTT	0.567												
ZNF677	342926	broad.mit.edu	37	19	53741699	53741699	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:53741699A>C	uc002qbf.1	-	5	466	c.281T>G	c.(280-282)TTT>TGT	p.F94C	ZNF677_uc002qbg.1_Missense_Mutation_p.F94C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CTTGAGGTCAAAATTGTTGAT	0.358												
ZNF813	126017	broad.mit.edu	37	19	53994119	53994119	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:53994119A>G	uc002qbu.2	+	4	761	c.633A>G	c.(631-633)AGA>AGG	p.R211R	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TACACATGAGAGAAAAGTCTT	0.333												
OSCAR	126014	broad.mit.edu	37	19	54600427	54600427	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54600427T>C	uc002qdd.2	-	4	287	c.170A>G	c.(169-171)AAG>AGG	p.K57R	OSCAR_uc002qcy.2_Missense_Mutation_p.K36R|OSCAR_uc002qcz.2_Missense_Mutation_p.K32R|OSCAR_uc002qda.2_Missense_Mutation_p.K36R|OSCAR_uc002qdb.2_Missense_Mutation_p.K21R|OSCAR_uc010erc.2_5'UTR|OSCAR_uc002qdc.2_Missense_Mutation_p.K46R	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	32	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CAGCCATGGCTTAGGGTGGTA	0.607												
LILRB5	10990	broad.mit.edu	37	19	54761053	54761053	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54761053T>G	uc002qex.2	-	1	115	c.4A>C	c.(4-6)ACC>CCC	p.T2P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.T2P|LILRB5_uc002qey.2_Missense_Mutation_p.T2P|LILRB5_uc002qez.2_Missense_Mutation_p.T2P|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	2					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTGAGGGTCATGGCGTCA	0.597												
LILRB2	10288	broad.mit.edu	37	19	54783401	54783401	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54783401A>G	uc002qfb.2	-	5	723	c.457T>C	c.(457-459)TTC>CTC	p.F153L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.F153L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.F153L|LILRB2_uc010yet.1_Missense_Mutation_p.F37L|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	153	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGAATGAAGCCGCCAAAT	0.612												
LILRB1	10859	broad.mit.edu	37	19	55143071	55143071	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55143071A>C	uc002qgj.2	+	5	531	c.191A>C	c.(190-192)AAG>ACG	p.K64T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.K64T|LILRB1_uc002qgk.2_Missense_Mutation_p.K64T|LILRB1_uc002qgm.2_Missense_Mutation_p.K64T|LILRB1_uc010erq.2_Missense_Mutation_p.K64T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	64	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		TATAGAGAAAAGAAAACAGCA	0.572										HNSCC(37;0.09)		
KIR3DP1	768329	broad.mit.edu	37	19	55301612	55301612	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55301612T>G	uc010yfi.1	+	5	792	c.791T>G	c.(790-792)CTT>CGT	p.L264R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Intron	NM_001015070	NP_001015070			killer-cell Ig-like receptor												0				GBM - Glioblastoma multiforme(193;0.0192)		GCTCATGAACTTAGGTTCCCT	0.582												
NLRP7	199713	broad.mit.edu	37	19	55451644	55451644	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55451644G>A	uc002qih.3	-	4	619	c.543C>T	c.(541-543)GGC>GGT	p.G181G	NLRP7_uc002qig.3_Silent_p.G181G|NLRP7_uc002qii.3_Silent_p.G181G|NLRP7_uc010esk.2_Silent_p.G181G|NLRP7_uc010esl.2_Silent_p.G209G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	181	NACHT.|ATP (Potential).						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TTTTCCCCACGCCTGCGGGGC	0.562												
NLRP8	126205	broad.mit.edu	37	19	56467099	56467099	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:56467099T>G	uc002qmh.2	+	3	1746	c.1675T>G	c.(1675-1677)TTA>GTA	p.L559V	NLRP8_uc010etg.2_Missense_Mutation_p.L559V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	559						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGGACTTTTCTTATTCGGTTT	0.463												
ZNF582	147948	broad.mit.edu	37	19	56895607	56895607	+	Silent	SNP	T	T	C	rs139795329	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:56895607T>C	uc002qmz.1	-	5	1338	c.1179A>G	c.(1177-1179)AAA>AAG	p.K393K	ZNF582_uc002qmy.2_Silent_p.K424K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTGGTAGGGTTTCTCTCCAG	0.428												
ZNF471	57573	broad.mit.edu	37	19	57036726	57036726	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57036726T>C	uc002qnh.2	+	5	1423	c.1290T>C	c.(1288-1290)CCT>CCC	p.P430P		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACCTTATGAATGTG	0.408												
PEG3	5178	broad.mit.edu	37	19	57325574	57325574	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57325574T>C	uc002qnu.2	-	7	4587	c.4236A>G	c.(4234-4236)GAA>GAG	p.E1412E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.E1383E|PEG3_uc002qnv.2_Silent_p.E1412E|PEG3_uc002qnw.2_Silent_p.E1288E|PEG3_uc002qnx.2_Silent_p.E1286E|PEG3_uc010etr.2_Silent_p.E1412E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1412	Glu-rich.|3 X 7 AA repeat of P-E-V-E-A-A-E.|2-3.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587												
PEG3	5178	broad.mit.edu	37	19	57328547	57328547	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57328547C>G	uc002qnu.2	-	7	1614	c.1263G>C	c.(1261-1263)GAG>GAC	p.E421D	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E392D|PEG3_uc002qnv.2_Missense_Mutation_p.E421D|PEG3_uc002qnw.2_Missense_Mutation_p.E297D|PEG3_uc002qnx.2_Missense_Mutation_p.E295D|PEG3_uc010etr.2_Missense_Mutation_p.E421D	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	421					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTCTCATCTCACTACCAC	0.493												
PEG3	5178	broad.mit.edu	37	19	57328612	57328612	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57328612C>T	uc002qnu.2	-	7	1549	c.1198G>A	c.(1198-1200)GGG>AGG	p.G400R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G371R|PEG3_uc002qnv.2_Missense_Mutation_p.G400R|PEG3_uc002qnw.2_Missense_Mutation_p.G276R|PEG3_uc002qnx.2_Missense_Mutation_p.G274R|PEG3_uc010etr.2_Missense_Mutation_p.G400R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	400					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCCCTTCCCATCTGTGTCA	0.463												
ZIM3	114026	broad.mit.edu	37	19	57648269	57648269	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57648269T>G	uc002qnz.1	-	4	599	c.213A>C	c.(211-213)GAA>GAC	p.E71D		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	71	KRAB.				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)		GCACTTCCTCTTCCTCCAACC	0.512												
ZSCAN1	284312	broad.mit.edu	37	19	58549309	58549309	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:58549309A>G	uc002qrc.1	+	3	352	c.105A>G	c.(103-105)GAA>GAG	p.E35E	ZSCAN1_uc002qra.1_Silent_p.E35E|ZSCAN1_uc002qrb.1_Silent_p.E35E	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716												
RSAD2	91543	broad.mit.edu	37	2	7023620	7023620	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:7023620G>A	uc002qyp.1	+	2	601	c.465G>A	c.(463-465)GTG>GTA	p.V155V		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	155					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGAGCATCGTGAGCAATGGAA	0.493												
KIDINS220	57498	broad.mit.edu	37	2	8930148	8930148	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:8930148A>G	uc002qzc.2	-	14	1665	c.1483T>C	c.(1483-1485)TTT>CTT	p.F495L	KIDINS220_uc010yiv.1_Missense_Mutation_p.F261L|KIDINS220_uc002qzd.2_Missense_Mutation_p.F453L|KIDINS220_uc010yiw.1_Missense_Mutation_p.F496L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	495	Cytoplasmic (Potential).|KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGAACTGAAAGAGAGGCTCA	0.398												
APOB	338	broad.mit.edu	37	2	21251320	21251320	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:21251320A>C	uc002red.2	-	13	1836	c.1708T>G	c.(1708-1710)TCA>GCA	p.S570A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	570	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGCCTGTGAAGGACTCCTC	0.438												
APOB	338	broad.mit.edu	37	2	21252624	21252624	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:21252624A>C	uc002red.2	-	12	1632	c.1504T>G	c.(1504-1506)TTA>GTA	p.L502V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	502	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGGAGTTAACTGCTCCATG	0.458												
C2orf44	80304	broad.mit.edu	37	2	24262225	24262225	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:24262225T>C	uc002rep.2	-	2	271	c.140A>G	c.(139-141)AAG>AGG	p.K47R	C2orf44_uc010eya.2_Missense_Mutation_p.K47R	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	47							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCCAAACTTGACCTCTCC	0.517												
AGBL5	60509	broad.mit.edu	37	2	27278631	27278631	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27278631A>G	uc002rie.2	+	7	1207	c.990A>G	c.(988-990)AAA>AAG	p.K330K	AGBL5_uc002ric.2_Silent_p.K330K|AGBL5_uc002rid.2_Silent_p.K330K|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	330					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGGGCCAAAGCTGTGCTTC	0.552												
NRBP1	29959	broad.mit.edu	37	2	27663749	27663749	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27663749T>C	uc002rko.2	+	15	2103	c.1271T>C	c.(1270-1272)GTC>GCC	p.V424A	NRBP1_uc002rkq.2_Missense_Mutation_p.V423A|NRBP1_uc002rkp.2_Missense_Mutation_p.V424A|NRBP1_uc002rkr.2_Missense_Mutation_p.V215A|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	424					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACATCACCTGTCGTGCCCCCC	0.602												
C2orf16	84226	broad.mit.edu	37	2	27801181	27801181	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27801181A>C	uc002rkz.3	+	1	1793	c.1742A>C	c.(1741-1743)GAG>GCG	p.E581A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	581										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAAACAGTGGAGTTGACAGGG	0.413												
C2orf16	84226	broad.mit.edu	37	2	27803126	27803126	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27803126A>C	uc002rkz.3	+	1	3738	c.3687A>C	c.(3685-3687)CAA>CAC	p.Q1229H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1229										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCCTGTACAAGTCTACATCA	0.463												
TMEM178	130733	broad.mit.edu	37	2	39944178	39944178	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:39944178T>G	uc002rrt.2	+	4	706	c.681T>G	c.(679-681)ACT>ACG	p.T227T	TMEM178_uc010fam.1_Silent_p.T181T	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	227	Helical; (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CCCTCTGTACTTATGCCGCCA	0.428												
THADA	63892	broad.mit.edu	37	2	43458445	43458445	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:43458445T>G	uc002rsw.3	-	38	5856	c.5504A>C	c.(5503-5505)AAC>ACC	p.N1835T	THADA_uc010far.2_Missense_Mutation_p.N1030T|THADA_uc002rsx.3_Missense_Mutation_p.N1835T|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1835							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGCCCAAAAGTTGACTTCTGC	0.498												
ABCG5	64240	broad.mit.edu	37	2	44065791	44065791	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:44065791C>T	uc002rtn.2	-	1	168	c.28G>A	c.(28-30)GGA>AGA	p.G10R	ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	10	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGGACCCTCCGGGGGTCAAA	0.637												
C2orf34	79823	broad.mit.edu	37	2	44599904	44599904	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:44599904G>C	uc002rum.2	+	2	292	c.188G>C	c.(187-189)AGA>ACA	p.R63T	C2orf34_uc002rul.2_Missense_Mutation_p.R63T	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	63						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)				GTATCTGTAAGAAGATTTGAA	0.368												
SIX2	10736	broad.mit.edu	37	2	45235747	45235747	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:45235747A>G	uc002ruo.2	-	1	796	c.503T>C	c.(502-504)GTC>GCC	p.V168A	SIX2_uc002rup.2_Missense_Mutation_p.V168A	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	168	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCAGTTGCTGACCTGTGTGGT	0.677												
SRBD1	55133	broad.mit.edu	37	2	45789805	45789805	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:45789805A>C	uc002rus.2	-	10	1472	c.1396T>G	c.(1396-1398)TGC>GGC	p.C466G	SRBD1_uc010yoc.1_5'UTR	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	466					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTGGATGCACCACCTACAG	0.343												
PSME4	23198	broad.mit.edu	37	2	54114530	54114530	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54114530T>C	uc002rxp.2	-	40	4651	c.4595A>G	c.(4594-4596)GAG>GGG	p.E1532G	PSME4_uc010yop.1_Missense_Mutation_p.E1418G|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.E907G|PSME4_uc010fbv.1_Missense_Mutation_p.E676G|PSME4_uc010fbt.1_Missense_Mutation_p.E19G	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCAGTAAACTCAGGGACATG	0.368												
TSPYL6	388951	broad.mit.edu	37	2	54482400	54482400	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54482400A>C	uc002rxr.2	-	1	1010	c.889T>G	c.(889-891)TTC>GTC	p.F297V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	297					nucleosome assembly	nucleus					0						CTTTGAAAGAAGAACTTAAAC	0.433												
VPS54	51542	broad.mit.edu	37	2	64139522	64139522	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:64139522A>T	uc002scq.2	-	20	2745	c.2582T>A	c.(2581-2583)CTT>CAT	p.L861H	VPS54_uc002scp.2_Missense_Mutation_p.L849H|VPS54_uc002scn.2_Missense_Mutation_p.L23H|VPS54_uc002sco.2_Missense_Mutation_p.L346H|VPS54_uc010fct.2_Missense_Mutation_p.L708H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	861					protein transport|retrograde transport, endosome to Golgi						0						TATCGCTACAAGCTTAGCTGA	0.294												
CEP68	23177	broad.mit.edu	37	2	65296690	65296690	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:65296690A>G	uc002sdl.3	+	2	326	c.112A>G	c.(112-114)AGT>GGT	p.S38G	CEP68_uc002sdj.2_Missense_Mutation_p.S38G|CEP68_uc010yqb.1_Missense_Mutation_p.S38G|CEP68_uc002sdk.3_Missense_Mutation_p.S38G|CEP68_uc010yqc.1_Missense_Mutation_p.S38G|CEP68_uc010yqd.1_Missense_Mutation_p.S38G	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	38					centrosome organization	centrosome				skin(1)	1						AGGGCCCATGAGTGGGGAGCA	0.612												
APLF	200558	broad.mit.edu	37	2	68729914	68729914	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:68729914C>A	uc002sep.2	+	3	393	c.220C>A	c.(220-222)CCA>ACA	p.P74T	APLF_uc010fdf.2_Missense_Mutation_p.P50T	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	74	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			ovary(2)	2						TCAGCTCTTACCATTGAAGCC	0.303												
ASPRV1	151516	broad.mit.edu	37	2	70188132	70188132	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:70188132T>C	uc002sfz.3	-	1	1266	c.689A>G	c.(688-690)GAT>GGT	p.D230G		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	230	Peptidase A2.|Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						CAGATCGCCATCAGTGACCTC	0.557												
DQX1	165545	broad.mit.edu	37	2	74745709	74745709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74745709G>A	uc010yrw.1	-	12	2183	c.2018C>T	c.(2017-2019)CCA>CTA	p.P673L	DQX1_uc002smc.2_Missense_Mutation_p.P234L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	673						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CAGGAAGTATGGAGGGGCCAA	0.368												
DQX1	165545	broad.mit.edu	37	2	74750496	74750496	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74750496A>C	uc010yrw.1	-	5	1150	c.985T>G	c.(985-987)TTC>GTC	p.F329V	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	329	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						GAGAAGGAGAAGTCAGCCAGC	0.552												
LOXL3	84695	broad.mit.edu	37	2	74763252	74763252	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74763252T>C	uc002smp.1	-	7	1191	c.1119A>G	c.(1117-1119)GAA>GAG	p.E373E	LOXL3_uc002smo.1_Silent_p.E12E|LOXL3_uc010ffm.1_Silent_p.E373E|LOXL3_uc002smq.1_Silent_p.E228E|LOXL3_uc010ffn.1_Silent_p.E228E	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	373	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGCAGCGAACTTCACTCAGGT	0.542												
ITPRIPL1	150771	broad.mit.edu	37	2	96993376	96993376	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:96993376A>G	uc002svx.2	+	3	1342	c.1007A>G	c.(1006-1008)AAG>AGG	p.K336R	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.K328R|ITPRIPL1_uc002svy.2_Missense_Mutation_p.K344R|ITPRIPL1_uc010yul.1_Missense_Mutation_p.K328R	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	336	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						GTGGCCCACAAGTATGACTTT	0.572												
KIAA1310	55683	broad.mit.edu	37	2	97285260	97285260	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:97285260G>A	uc002swn.3	-	5	645	c.499C>T	c.(499-501)CGC>TGC	p.R167C	KIAA1310_uc002swh.3_Missense_Mutation_p.R55C|KIAA1310_uc002swi.3_Missense_Mutation_p.R68C|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R80C|KIAA1310_uc010fhz.2_5'UTR|KIAA1310_uc002swl.3_Missense_Mutation_p.R68C|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.R68C|KIAA1310_uc002swq.1_5'UTR|KIAA1310_uc010fhy.1_Missense_Mutation_p.R68C	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	167											0						GCAACACGGCGCAGCACTGGC	0.532												
VWA3B	200403	broad.mit.edu	37	2	98846549	98846549	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:98846549A>G	uc002syo.2	+	16	2451	c.2187A>G	c.(2185-2187)CCA>CCG	p.P729P	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.P248P|VWA3B_uc002sym.2_Silent_p.P729P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P386P|VWA3B_uc002syp.1_Silent_p.P121P|VWA3B_uc002syq.1_Silent_p.P5P|VWA3B_uc002syr.1_Silent_p.P46P	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	729										ovary(3)|large_intestine(2)|skin(1)	6						TTTCAACCCCAGAAAAGTGTG	0.368												
MGAT4A	11320	broad.mit.edu	37	2	99242292	99242292	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:99242292A>C	uc002sze.2	-	15	1789	c.1475T>G	c.(1474-1476)TTT>TGT	p.F492C	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.F364C|MGAT4A_uc010fil.2_Missense_Mutation_p.F246C	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	492	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						ACCATTCTCAAATTTTCCTTC	0.363												
C2orf55	343990	broad.mit.edu	37	2	99413927	99413927	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:99413927A>G	uc002szf.1	-	8	2784	c.2490T>C	c.(2488-2490)ACT>ACC	p.T830T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	830											0						GCTTCTGCCGAGTGACGGTGA	0.602												
IL1RL1	9173	broad.mit.edu	37	2	102959826	102959826	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:102959826T>G	uc002tbu.1	+	8	1192	c.921T>G	c.(919-921)AAT>AAG	p.N307K	IL1RL1_uc010ywa.1_Missense_Mutation_p.N190K|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.N307K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	307	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TGGCCCTGAATTTGCATGGCT	0.433												
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:105859262A>G	uc002tco.1	+	1	1063	c.947A>G	c.(946-948)AAG>AGG	p.K316R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						AGTTACCTCAAGTCCGTCTTC	0.547												
ST6GAL2	84620	broad.mit.edu	37	2	107460346	107460346	+	Missense_Mutation	SNP	A	A	C	rs138857139		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:107460346A>C	uc002tdq.2	-	2	207	c.88T>G	c.(88-90)TTC>GTC	p.F30V	ST6GAL2_uc002tdr.2_Missense_Mutation_p.F30V|ST6GAL2_uc002tds.3_Missense_Mutation_p.F30V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	30	Helical; Signal-anchor for type II membrane protein; (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTGTCGGTGAAGTAGATGAAA	0.562												
IL1RN	3557	broad.mit.edu	37	2	113890280	113890280	+	Silent	SNP	C	C	T	rs139208403		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:113890280C>T	uc002tjb.2	+	4	430	c.366C>T	c.(364-366)CGC>CGT	p.R122R	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Silent_p.R88R|IL1RN_uc002tiz.2_Silent_p.R125R|IL1RN_uc002tja.2_Silent_p.R104R	NM_173842	NP_776214	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 1	122					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)	AGGACAAGCGCTTCGCCTTCA	0.577									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
PCDP1	200373	broad.mit.edu	37	2	120366116	120366116	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120366116T>G	uc002tmb.2	+	13	1406	c.314T>G	c.(313-315)CTT>CGT	p.L105R	PCDP1_uc010yyq.1_Missense_Mutation_p.L235R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	391						cilium	calmodulin binding				0	Colorectal(110;0.196)					TCTTTTAAACTTAAAAAAGAG	0.368												
PCDP1	200373	broad.mit.edu	37	2	120387510	120387510	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120387510T>G	uc002tmb.2	+	18	1944	c.852T>G	c.(850-852)AGT>AGG	p.S284R	PCDP1_uc010yyq.1_Missense_Mutation_p.S414R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	570						cilium	calmodulin binding				0	Colorectal(110;0.196)					TCAAGCAGAGTTATTCCTTCT	0.348												
MYO7B	4648	broad.mit.edu	37	2	128322862	128322862	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128322862T>C	uc002top.2	+	4	240	c.187T>C	c.(187-189)TCA>CCA	p.S63P		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	63						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACCCCAACTCAGTCCAGGG	0.597												
MYO7B	4648	broad.mit.edu	37	2	128324348	128324348	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128324348A>C	uc002top.2	+	5	469	c.416A>C	c.(415-417)AAC>ACC	p.N139T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	139	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCATCGCCAACAACTGCTAC	0.587												
MYO7B	4648	broad.mit.edu	37	2	128342423	128342423	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128342423A>C	uc002top.2	+	14	1678	c.1625A>C	c.(1624-1626)AAG>ACG	p.K542T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	542	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTACAGCCCAAGAACATCCAC	0.542												
POTEE	445582	broad.mit.edu	37	2	131976386	131976386	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:131976386A>C	uc002tsn.2	+	1	463	c.411A>C	c.(409-411)GGA>GGC	p.G137G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	137							ATP binding				0						ACGTCCGTGGAGAAGATCTGG	0.587												
POTEE	445582	broad.mit.edu	37	2	132021841	132021841	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:132021841A>G	uc002tsn.2	+	15	2865	c.2813A>G	c.(2812-2814)AAG>AGG	p.K938R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.K538R|POTEE_uc002tsl.2_Missense_Mutation_p.K520R|POTEE_uc010fmy.1_Missense_Mutation_p.K402R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	938	Actin-like.						ATP binding				0						TCCCTAGAGAAGAGCTACGAG	0.617												
MGAT5	4249	broad.mit.edu	37	2	135099202	135099202	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:135099202T>G	uc002ttv.1	+	7	994	c.849T>G	c.(847-849)TTT>TTG	p.F283L		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	283	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AATCTGGATTTAAGATTGCAG	0.433												
MCM6	4175	broad.mit.edu	37	2	136623713	136623713	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:136623713T>G	uc002tuw.2	-	6	992	c.916A>C	c.(916-918)ACC>CCC	p.T306P		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	306					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|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGGGTTGGTTGGCGCAACA	0.343												
KIF5C	3800	broad.mit.edu	37	2	149847707	149847707	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:149847707T>C	uc010zbu.1	+	16	2268	c.1900T>C	c.(1900-1902)TCC>CCC	p.S634P	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.S186P	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	634					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTGCTCATCTCCCAGGTGGG	0.592												
KCNJ3	3760	broad.mit.edu	37	2	155711631	155711631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:155711631C>T	uc002tyv.1	+	3	1507	c.1312C>T	c.(1312-1314)CAA>TAA	p.Q438*	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	438	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CATGAAACTTCAACGAATAAG	0.423												
LY75	4065	broad.mit.edu	37	2	160667104	160667104	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:160667104A>G	uc002ubc.3	-	32	4701	c.4632T>C	c.(4630-4632)GGT>GGC	p.G1544G	LY75_uc002ubb.3_Silent_p.G1544G|LY75_uc010fos.2_Silent_p.G1544G	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1544	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		TGTAACAGTGACCCTTGTACT	0.353												
PLA2R1	22925	broad.mit.edu	37	2	160876695	160876695	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:160876695G>A	uc002ube.1	-	8	1581	c.1374C>T	c.(1372-1374)GTC>GTT	p.V458V	PLA2R1_uc010zcp.1_Silent_p.V458V|PLA2R1_uc002ubf.2_Silent_p.V458V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	458	Extracellular (Potential).|C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TAGTAAAGATGACTGAAGAGT	0.358												
SLC4A10	57282	broad.mit.edu	37	2	162627547	162627547	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:162627547A>G	uc002ubx.3	+	2	297	c.113A>G	c.(112-114)GAG>GGG	p.E38G	SLC4A10_uc010fpa.1_Missense_Mutation_p.E50G|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.E38G|SLC4A10_uc010zcs.1_Missense_Mutation_p.E49G	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	38	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ACACACTTTGAGAAAGAAGAT	0.343												
SCN9A	6335	broad.mit.edu	37	2	167162347	167162347	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:167162347A>C	uc010fpl.2	-	5	892	c.551T>G	c.(550-552)CTT>CGT	p.L184R	SCN9A_uc002udr.1_Missense_Mutation_p.L55R|SCN9A_uc002uds.1_Missense_Mutation_p.L55R|SCN9A_uc002udt.1_Missense_Mutation_p.L55R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	184	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CGGGTCACGAAGAAAAGTGAA	0.378												
LRP2	4036	broad.mit.edu	37	2	170096101	170096101	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:170096101A>C	uc002ues.2	-	26	4443	c.4230T>G	c.(4228-4230)TCT>TCG	p.S1410S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1410	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCACCGGAAAGAACCTCTCA	0.428												
OSBPL6	114880	broad.mit.edu	37	2	179214014	179214014	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179214014G>A	uc002ulx.2	+	12	1429	c.1051G>A	c.(1051-1053)GAT>AAT	p.D351N	OSBPL6_uc002ulw.2_Missense_Mutation_p.D320N|OSBPL6_uc002uly.2_Missense_Mutation_p.D376N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D320N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D351N|OSBPL6_uc002uma.2_Missense_Mutation_p.D355N	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	351					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTTTGTGCAGATATTGAATT	0.433												
TTN	7273	broad.mit.edu	37	2	179418814	179418814	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179418814T>C	uc010zfg.1	-	282	81544	c.81320A>G	c.(81319-81321)AAG>AGG	p.K27107R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20802R|TTN_uc010zfi.1_Missense_Mutation_p.K20735R|TTN_uc010zfj.1_Missense_Mutation_p.K20610R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28034							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGCTCTTCTTGTCTCGTTT	0.403												
TTN	7273	broad.mit.edu	37	2	179442423	179442423	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179442423T>C	uc010zfg.1	-	272	61250	c.61026A>G	c.(61024-61026)GGA>GGG	p.G20342G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G14037G|TTN_uc010zfi.1_Silent_p.G13970G|TTN_uc010zfj.1_Silent_p.G13845G|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21269							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCATATTTTCCACCCTCAA	0.413												
TTN	7273	broad.mit.edu	37	2	179444488	179444488	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179444488C>T	uc010zfg.1	-	268	59956	c.59732G>A	c.(59731-59733)GGT>GAT	p.G19911D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13606D|TTN_uc010zfi.1_Missense_Mutation_p.G13539D|TTN_uc010zfj.1_Missense_Mutation_p.G13414D|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20838							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGACTTCCACCATCACTGTG	0.418												
TTN	7273	broad.mit.edu	37	2	179586740	179586740	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179586740T>C	uc010zfg.1	-	75	19142	c.18918A>G	c.(18916-18918)AAA>AAG	p.K6306K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2967K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7233							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGTTATCTTTTGACCAAG	0.418												
TTN	7273	broad.mit.edu	37	2	179604861	179604861	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179604861T>G	uc010zfh.1	-	46	12810	c.12586A>C	c.(12586-12588)AAG>CAG	p.K4196Q	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4129Q|TTN_uc010zfj.1_Missense_Mutation_p.K4004Q|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTTCTTTATTGCCACG	0.438												
TTN	7273	broad.mit.edu	37	2	179605054	179605054	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179605054T>G	uc010zfh.1	-	46	12617	c.12393A>C	c.(12391-12393)AAA>AAC	p.K4131N	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4064N|TTN_uc010zfj.1_Missense_Mutation_p.K3939N|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCAAAATTTTACCTCCTT	0.458												
TTN	7273	broad.mit.edu	37	2	179647069	179647069	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179647069A>G	uc010zfg.1	-	20	3474	c.3250T>C	c.(3250-3252)TTT>CTT	p.F1084L	TTN_uc010zfh.1_Missense_Mutation_p.F1038L|TTN_uc010zfi.1_Missense_Mutation_p.F1038L|TTN_uc010zfj.1_Missense_Mutation_p.F1038L|TTN_uc002unb.2_Missense_Mutation_p.F1084L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1084							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTAATAAAGTAAGGCGCG	0.493												
FAM171B	165215	broad.mit.edu	37	2	187627276	187627276	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:187627276T>A	uc002ups.2	+	8	2319	c.2207T>A	c.(2206-2208)CTT>CAT	p.L736H	FAM171B_uc002upr.1_Missense_Mutation_p.L703H|FAM171B_uc002upt.2_Missense_Mutation_p.L205H	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	736	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						CCCAAGATCCTTTACTTAGAA	0.488												
DNAH7	56171	broad.mit.edu	37	2	196774826	196774826	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:196774826T>G	uc002utj.3	-	25	4130	c.4029A>C	c.(4027-4029)AAA>AAC	p.K1343N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1343	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGGCTACAGCTTTTGCCAAAT	0.428												
RFTN2	130132	broad.mit.edu	37	2	198498574	198498574	+	Missense_Mutation	SNP	T	T	G	rs138508855		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:198498574T>G	uc002uuo.3	-	4	988	c.586A>C	c.(586-588)AGT>CGT	p.S196R		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	196						plasma membrane					0						TCATTCCAACTTCTACAGTTT	0.408												
ZDBF2	57683	broad.mit.edu	37	2	207175077	207175077	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:207175077T>G	uc002vbp.2	+	5	6075	c.5825T>G	c.(5824-5826)ATC>AGC	p.I1942S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1942							nucleic acid binding|zinc ion binding			ovary(3)	3						ACAGCGAAAATCAGCCATAGT	0.443												
LOC200726	200726	broad.mit.edu	37	2	207508994	207508994	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:207508994C>G	uc010fuh.1	+	2	209	c.34C>G	c.(34-36)CGC>GGC	p.R12G		NM_001102659	NP_001096129			hypothetical protein LOC200726												0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		AGGGATCCACCGCCCCTTGAG	0.522												
MAP2	4133	broad.mit.edu	37	2	210558124	210558124	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:210558124A>C	uc002vde.1	+	7	1478	c.1230A>C	c.(1228-1230)GAA>GAC	p.E410D	MAP2_uc002vdc.1_Missense_Mutation_p.E410D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E406D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	410					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTTAGAGGAAGAAAAGGAGG	0.448												
MAP2	4133	broad.mit.edu	37	2	210559603	210559603	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:210559603A>C	uc002vde.1	+	7	2957	c.2709A>C	c.(2707-2709)AAA>AAC	p.K903N	MAP2_uc002vdc.1_Missense_Mutation_p.K903N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K899N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	903					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGATGATAAAGTTCGAAGAG	0.448												
ACADL	33	broad.mit.edu	37	2	211081208	211081208	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:211081208A>C	uc002vdz.3	-	4	627	c.399T>G	c.(397-399)GGT>GGG	p.G133G		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	133					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GAATACTAAAACCTGGGCCTG	0.323												
CPS1	1373	broad.mit.edu	37	2	211469879	211469879	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:211469879A>C	uc002vee.3	+	17	2022	c.1890A>C	c.(1888-1890)AAA>AAC	p.K630N	CPS1_uc010fur.2_Missense_Mutation_p.K636N|CPS1_uc010fus.2_Missense_Mutation_p.K179N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	630	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGGTTGGAAAGAAATAGAAT	0.408												
CXCR1	3577	broad.mit.edu	37	2	219028947	219028947	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219028947A>C	uc002vhc.2	-	2	1107	c.988T>G	c.(988-990)TTC>GTC	p.F330V		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	330	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CGTGCCAAGAACTCCTTGCTG	0.488												
PRKAG3	53632	broad.mit.edu	37	2	219692328	219692328	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219692328T>C	uc002vjb.1	-	8	864	c.845A>G	c.(844-846)AAG>AGG	p.K282R	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S324G	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	282	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGAGGCTTGAAGCAGCC	0.592												
IHH	3549	broad.mit.edu	37	2	219920314	219920314	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219920314G>A	uc002vjo.1	-	3	851	c.851C>T	c.(850-852)ACG>ATG	p.T284M		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	284					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCGGCTCCGTGTGATTGTC	0.677												
SLC23A3	151295	broad.mit.edu	37	2	220034257	220034257	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:220034257A>G	uc010zks.1	-	2	417	c.306T>C	c.(304-306)ACT>ACC	p.T102T	NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zkr.1_Silent_p.T102T|SLC23A3_uc010fwb.2_Silent_p.T102T|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	102	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCATCCAAGTTTGCAGGA	0.577												
SLC4A3	6508	broad.mit.edu	37	2	220505320	220505320	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:220505320A>C	uc002vmp.3	+	21	3715	c.3446A>C	c.(3445-3447)AAG>ACG	p.K1149T	SLC4A3_uc002vmo.3_Missense_Mutation_p.K1176T|SLC4A3_uc010fwm.2_Missense_Mutation_p.K699T	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1149	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGTGACCAAGGTAGGGCCG	0.572												
COL4A4	1286	broad.mit.edu	37	2	227875129	227875129	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:227875129C>T	uc010zlt.1	-	45	5076	c.4422G>A	c.(4420-4422)ACG>ACA	p.T1474T		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1474	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCTCCTGGTCCGTCTGACTGT	0.592												
AGFG1	3267	broad.mit.edu	37	2	228416701	228416701	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228416701A>G	uc002vpc.2	+	11	1655	c.1405A>G	c.(1405-1407)AGC>GGC	p.S469G	AGFG1_uc002vpd.2_Missense_Mutation_p.S493G|AGFG1_uc002vpe.2_Missense_Mutation_p.S469G|AGFG1_uc002vpf.2_Missense_Mutation_p.S429G	NM_004504	NP_004495	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 2	469					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TGCATCCATGAGCATGCCCAC	0.498												
SPHKAP	80309	broad.mit.edu	37	2	228882528	228882528	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228882528T>G	uc002vpq.2	-	7	3089	c.3042A>C	c.(3040-3042)AAA>AAC	p.K1014N	SPHKAP_uc002vpp.2_Missense_Mutation_p.K1014N|SPHKAP_uc010zlx.1_Missense_Mutation_p.K1014N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1014						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGCTTTTCTTTAAGCTCAG	0.512												
SPHKAP	80309	broad.mit.edu	37	2	228884060	228884060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228884060C>T	uc002vpq.2	-	7	1557	c.1510G>A	c.(1510-1512)GCC>ACC	p.A504T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A504T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A504T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	504						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATCACAGTGGCTGCACAAGCT	0.522												
DEFB125	245938	broad.mit.edu	37	20	76727	76727	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:76727T>G	uc002wcw.2	+	2	140	c.140T>G	c.(139-141)CTT>CGT	p.L47R		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	47					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AGGTACATACTTCTTTGTAGG	0.353												
ANGPT4	51378	broad.mit.edu	37	20	860401	860401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:860401C>T	uc002wei.2	-	6	1145	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	ANGPT4_uc010zpn.1_Missense_Mutation_p.D342N	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	348	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						TGTTTGTAATCCTTCCAGTTC	0.597												
SIRPG	55423	broad.mit.edu	37	20	1629745	1629745	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:1629745T>C	uc002wfm.1	-	2	448	c.383A>G	c.(382-384)GAG>GGG	p.E128G	SIRPG_uc002wfn.1_Missense_Mutation_p.E128G|SIRPG_uc002wfo.1_Missense_Mutation_p.E128G	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	128	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						CTCCACGTTCTCAGGGCTCCC	0.483												
SIGLEC1	6614	broad.mit.edu	37	20	3687035	3687035	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:3687035T>G	uc002wja.2	-	2	368	c.368A>C	c.(367-369)AAC>ACC	p.N123T	SIGLEC1_uc002wiz.3_Missense_Mutation_p.N123T|SIGLEC1_uc002wjc.2_Missense_Mutation_p.N34T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	123	Ig-like V-type.|Extracellular (Potential).|Sialic acid binding (By similarity).				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						TGACCAGCGGTTGACCTCACT	0.597												
MAVS	57506	broad.mit.edu	37	20	3838286	3838286	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:3838286G>C	uc002wjw.3	+	3	291	c.122G>C	c.(121-123)CGA>CCA	p.R41P	MAVS_uc002wjv.2_Missense_Mutation_p.R41P|MAVS_uc010zqn.1_Missense_Mutation_p.R41P|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	41	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						TTCCAGGATCGACTGCGGGCC	0.627												
CHGB	1114	broad.mit.edu	37	20	5903802	5903802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:5903802G>A	uc002wmg.2	+	4	1318	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	CHGB_uc010zqz.1_Missense_Mutation_p.E21K	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	338						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TTCAGAGGAAGAACCTGAATA	0.537												
ISM1	140862	broad.mit.edu	37	20	13279747	13279747	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:13279747T>G	uc010gce.1	+	6	1042	c.1036T>G	c.(1036-1038)TTC>GTC	p.F346V	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	346	AMOP.					extracellular region					0						GCGCAAGGACTTCCGCTGGAA	0.627												
BFSP1	631	broad.mit.edu	37	20	17474931	17474931	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:17474931C>T	uc002wpo.2	-	8	1825	c.1786G>A	c.(1786-1788)GAT>AAT	p.D596N	BFSP1_uc002wpp.2_Missense_Mutation_p.D471N|BFSP1_uc010zrn.1_Missense_Mutation_p.D457N|BFSP1_uc010zro.1_Missense_Mutation_p.D457N	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	596	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						TCAGCTCCATCCTGATCAGCC	0.567												
RALGAPA2	57186	broad.mit.edu	37	20	20610136	20610136	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:20610136C>T	uc002wrz.2	-	10	1247	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	RALGAPA2_uc010gcx.2_Silent_p.S72S|RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	368					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GTCTTCGGTCCGACAAGGTGC	0.537												
DEFB116	245930	broad.mit.edu	37	20	29891089	29891089	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:29891089T>C	uc010ztm.1	-	2	235	c.235A>G	c.(235-237)AAA>GAA	p.K79E		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	79					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCACATTTTTAGAACTGGTT	0.393												
NCOA6	23054	broad.mit.edu	37	20	33315155	33315155	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:33315155C>G	uc002xav.2	-	15	8627	c.6056G>C	c.(6055-6057)CGA>CCA	p.R2019P	NCOA6_uc002xaw.2_Missense_Mutation_p.R2019P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2019	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CTCTTCAGTTCGGGAGTTTCT	0.488												
PHF20	51230	broad.mit.edu	37	20	34505573	34505573	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:34505573T>G	uc002xek.1	+	13	2104	c.1993T>G	c.(1993-1995)TTC>GTC	p.F665V		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	665	PHD-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GGAAAATGACTTCATGATTCA	0.507												
RPN2	6185	broad.mit.edu	37	20	35857032	35857032	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:35857032A>C	uc002xgp.2	+	12	1683	c.1379A>C	c.(1378-1380)AAG>ACG	p.K460T	RPN2_uc002xgo.3_Missense_Mutation_p.K460T|RPN2_uc010gfw.2_Missense_Mutation_p.K303T|RPN2_uc002xgq.2_Missense_Mutation_p.K428T	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	460	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AACGTGTACAAGTTTGAACTG	0.433												
PLCG1	5335	broad.mit.edu	37	20	39793674	39793674	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:39793674A>G	uc002xjp.1	+	13	1440	c.1319A>G	c.(1318-1320)AAG>AGG	p.K440R	PLCG1_uc002xjo.1_Missense_Mutation_p.K440R|PLCG1_uc010zwe.1_Missense_Mutation_p.K66R|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	440	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CTCCTCACCAAGCCCGTGGAG	0.577												
CHD6	84181	broad.mit.edu	37	20	40116398	40116398	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:40116398C>T	uc002xka.1	-	14	2086	c.1908G>A	c.(1906-1908)GAG>GAA	p.E636E	CHD6_uc002xkd.2_Silent_p.E614E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	636	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AACTGAAGAGCTCCTCCACAG	0.428												
PTPRT	11122	broad.mit.edu	37	20	40877418	40877418	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:40877418C>T	uc002xkg.2	-	14	2405	c.2221G>A	c.(2221-2223)GTG>ATG	p.V741M	PTPRT_uc010ggj.2_Missense_Mutation_p.V760M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	741	Extracellular (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGTTGTCCACCTGCTTCTCT	0.522												
ZNF334	55713	broad.mit.edu	37	20	45130560	45130560	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45130560T>G	uc002xsc.2	-	5	1602	c.1418A>C	c.(1417-1419)AAG>ACG	p.K473T	ZNF334_uc002xsa.2_Missense_Mutation_p.K496T|ZNF334_uc002xsb.2_Missense_Mutation_p.K435T|ZNF334_uc002xsd.2_Missense_Mutation_p.K435T|ZNF334_uc010ghl.2_Missense_Mutation_p.K472T	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	473	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GAGTGTTGACTTATGGCAGAA	0.363												
ZNF334	55713	broad.mit.edu	37	20	45131159	45131159	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45131159A>C	uc002xsc.2	-	5	1003	c.819T>G	c.(817-819)ACT>ACG	p.T273T	ZNF334_uc002xsa.2_Silent_p.T296T|ZNF334_uc002xsb.2_Silent_p.T235T|ZNF334_uc002xsd.2_Silent_p.T235T|ZNF334_uc010ghl.2_Silent_p.T272T	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	273	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TCACACGAAAAGTTTTCCTAC	0.403												
SLC13A3	64849	broad.mit.edu	37	20	45239199	45239199	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45239199T>C	uc002xsf.1	-	3	465	c.427A>G	c.(427-429)AGC>GGC	p.S143G	SLC13A3_uc010ghn.1_Missense_Mutation_p.S112G|SLC13A3_uc010zxw.1_Missense_Mutation_p.S143G|SLC13A3_uc002xsg.1_Missense_Mutation_p.S96G|SLC13A3_uc010gho.1_Missense_Mutation_p.S96G|SLC13A3_uc010zxx.1_Missense_Mutation_p.S45G|SLC13A3_uc002xsi.3_Missense_Mutation_p.S96G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	143	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCGGTGTTGCTCAGCCACATG	0.562												
NCOA3	8202	broad.mit.edu	37	20	46251013	46251013	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:46251013T>G	uc002xtk.2	+	3	227	c.22T>G	c.(22-24)TTG>GTG	p.L8V	NCOA3_uc010ght.1_Missense_Mutation_p.L8V|NCOA3_uc002xtl.2_Missense_Mutation_p.L8V|NCOA3_uc002xtm.2_Missense_Mutation_p.L8V|NCOA3_uc002xtn.2_Missense_Mutation_p.L8V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	8					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AGGAGAAAACTTGGATCCACT	0.373												
NCOA3	8202	broad.mit.edu	37	20	46264433	46264433	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:46264433T>C	uc002xtk.2	+	11	1685	c.1480T>C	c.(1480-1482)TCA>CCA	p.S494P	NCOA3_uc010ght.1_Missense_Mutation_p.S504P|NCOA3_uc002xtl.2_Missense_Mutation_p.S494P|NCOA3_uc002xtm.2_Missense_Mutation_p.S494P|NCOA3_uc002xtn.2_Missense_Mutation_p.S494P|NCOA3_uc010zyc.1_Missense_Mutation_p.S289P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	494					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AAAGATAGCCTCACATCAGTT	0.393												
ARFGEF2	10564	broad.mit.edu	37	20	47604924	47604924	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:47604924A>G	uc002xtx.3	+	17	2512	c.2360A>G	c.(2359-2361)CAG>CGG	p.Q787R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q80R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	787					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)			CACAGTCCTCAGGTAAAGCAC	0.333												
KCNB1	3745	broad.mit.edu	37	20	47990728	47990728	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:47990728T>C	uc002xur.1	-	2	1533	c.1369A>G	c.(1369-1371)AGC>GGC	p.S457G	KCNB1_uc002xus.1_Missense_Mutation_p.S457G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	457	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATCTCAATGCTCCGGGCAAAA	0.448												
CYP24A1	1591	broad.mit.edu	37	20	52773991	52773991	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:52773991A>G	uc002xwv.2	-	10	1768	c.1370T>C	c.(1369-1371)GTT>GCT	p.V457A	CYP24A1_uc002xwu.1_Missense_Mutation_p.V315A|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	457					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCTTTTTCCAACGCCAAATGG	0.408												
STX16	8675	broad.mit.edu	37	20	57246330	57246330	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:57246330T>G	uc002xzi.2	+	7	1504	c.769T>G	c.(769-771)TTA>GTA	p.L257V	STX16_uc010zzq.1_Missense_Mutation_p.L71V|STX16_uc002xzk.2_Missense_Mutation_p.L240V|STX16_uc002xzm.2_Missense_Mutation_p.L253V|STX16_uc002xzj.2_Missense_Mutation_p.L236V|STX16_uc002xzl.2_Missense_Mutation_p.L71V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	257	t-SNARE coiled-coil homology.|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)			ATTCAGGGACTTAGGGGCGAT	0.468												
SYCP2	10388	broad.mit.edu	37	20	58467402	58467402	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:58467402T>G	uc002yaz.2	-	23	2146	c.2007A>C	c.(2005-2007)AAA>AAC	p.K669N		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATTTCACTTTTCCTGTTC	0.279												
TAF4	6874	broad.mit.edu	37	20	60582672	60582672	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:60582672T>A	uc002ybs.2	-	6	1905	c.1905A>T	c.(1903-1905)GAA>GAT	p.E635D		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	635	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGTGAAATCTTCTGCTTCTA	0.428												
LSM14B	149986	broad.mit.edu	37	20	60706523	60706523	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:60706523A>C	uc010gjy.1	+	7	1153	c.947A>C	c.(946-948)AAG>ACG	p.K316T	LSM14B_uc002ybv.2_Missense_Mutation_p.K290T|LSM14B_uc010zzz.1_Missense_Mutation_p.K236T	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	316	FFD box.				multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GACAAATCCAAGTCGTTCTTC	0.547												
NPBWR2	2832	broad.mit.edu	37	20	62737206	62737206	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:62737206A>C	uc011abt.1	-	1	979	c.979T>G	c.(979-981)TTC>GTC	p.F327V		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	327	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ATGCTGCGGAAGTTCTTCCGG	0.383												
MYT1	4661	broad.mit.edu	37	20	62853325	62853325	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:62853325A>C	uc002yii.2	+	14	2685	c.2321A>C	c.(2320-2322)AAG>ACG	p.K774T	MYT1_uc002yih.2_Missense_Mutation_p.K476T|MYT1_uc002yij.2_Missense_Mutation_p.K433T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	774					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGGAGCGGAAGTATCCGGGG	0.498												
CLDN8	9073	broad.mit.edu	37	21	31588128	31588128	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:31588128T>G	uc002ynu.1	-	1	191	c.116A>C	c.(115-117)AAC>ACC	p.N39T		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	39	Extracellular (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AACCACGATGTTGTTTTCAAT	0.488												
SYNJ1	8867	broad.mit.edu	37	21	34003768	34003768	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:34003768T>G	uc002yqh.2	-	32	4376	c.4376A>C	c.(4375-4377)AAG>ACG	p.K1459T	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.K1373T|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Missense_Mutation_p.K45T	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1420	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TTCTTCAGACTTGGCTCTAAA	0.458												
ITSN1	6453	broad.mit.edu	37	21	35147303	35147303	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:35147303T>G	uc002yta.1	+	14	1755	c.1487T>G	c.(1486-1488)CTT>CGT	p.L496R	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.L496R|ITSN1_uc010gmg.2_Missense_Mutation_p.L459R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.L496R|ITSN1_uc010gmi.2_Missense_Mutation_p.L459R|ITSN1_uc010gmj.2_Missense_Mutation_p.L380R|ITSN1_uc002ysy.2_Missense_Mutation_p.L496R|ITSN1_uc002ysx.2_Missense_Mutation_p.L459R|ITSN1_uc002ytb.1_Missense_Mutation_p.L496R|ITSN1_uc002ytc.1_Missense_Mutation_p.L496R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.L459R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.L496R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.L430R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	496	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						GAAGGGAAACTTCAAGATATC	0.328												
ITSN1	6453	broad.mit.edu	37	21	35154338	35154338	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:35154338A>G	uc002yta.1	+	16	1993	c.1725A>G	c.(1723-1725)AAA>AAG	p.K575K	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.K575K|ITSN1_uc010gmg.2_Silent_p.K538K|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.K575K|ITSN1_uc010gmi.2_Silent_p.K538K|ITSN1_uc010gmj.2_Silent_p.K459K|ITSN1_uc002ysy.2_Silent_p.K575K|ITSN1_uc002ysx.2_Silent_p.K538K|ITSN1_uc002ytb.1_Silent_p.K575K|ITSN1_uc002ytc.1_Silent_p.K575K|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.K538K|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.K575K|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.K509K	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	575	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						TAGAAGCAAAAGAACTAGCTC	0.363												
PRDM15	63977	broad.mit.edu	37	21	43258119	43258119	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:43258119T>C	uc002yzq.1	-	15	2134	c.2023A>G	c.(2023-2025)ACG>GCG	p.T675A	PRDM15_uc002yzo.2_Missense_Mutation_p.T346A|PRDM15_uc002yzp.2_Missense_Mutation_p.T346A|PRDM15_uc002yzr.1_Missense_Mutation_p.T346A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATCTGGCGTTGCACTCACA	0.577												
PDE9A	5152	broad.mit.edu	37	21	44185506	44185506	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:44185506A>C	uc002zbm.2	+	15	1321	c.1258A>C	c.(1258-1260)ATC>CTC	p.I420L	PDE9A_uc002zbn.2_Missense_Mutation_p.I293L|PDE9A_uc002zbo.2_Missense_Mutation_p.I367L|PDE9A_uc002zbp.2_Missense_Mutation_p.I213L|PDE9A_uc002zbq.2_Missense_Mutation_p.I318L|PDE9A_uc002zbs.2_Missense_Mutation_p.I213L|PDE9A_uc002zbr.2_Missense_Mutation_p.I213L|PDE9A_uc002zbt.2_Missense_Mutation_p.I292L|PDE9A_uc002zbu.2_Missense_Mutation_p.I286L|PDE9A_uc002zbv.2_Missense_Mutation_p.I260L|PDE9A_uc002zbw.2_Missense_Mutation_p.I203L|PDE9A_uc002zbx.2_Missense_Mutation_p.I360L|PDE9A_uc002zby.2_Missense_Mutation_p.I203L|PDE9A_uc002zbz.2_Missense_Mutation_p.I312L|PDE9A_uc002zca.2_Missense_Mutation_p.I379L|PDE9A_uc002zcb.2_Missense_Mutation_p.I394L|PDE9A_uc002zcc.2_Missense_Mutation_p.I319L|PDE9A_uc002zcd.2_Missense_Mutation_p.I334L|PDE9A_uc002zce.2_Missense_Mutation_p.I353L|PDE9A_uc002zcf.2_Missense_Mutation_p.I213L|PDE9A_uc002zcg.2_Missense_Mutation_p.I213L|PDE9A_uc002zch.2_Missense_Mutation_p.I203L|PDE9A_uc010gpf.1_Missense_Mutation_p.I213L	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	420	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						GATCACATTAATCTTGGCCAC	0.443												
PDE9A	5152	broad.mit.edu	37	21	44189228	44189228	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:44189228A>C	uc002zbm.2	+	17	1616	c.1553A>C	c.(1552-1554)AAG>ACG	p.K518T	PDE9A_uc002zbn.2_Missense_Mutation_p.K391T|PDE9A_uc002zbo.2_Missense_Mutation_p.K465T|PDE9A_uc002zbp.2_Missense_Mutation_p.K311T|PDE9A_uc002zbq.2_Missense_Mutation_p.K416T|PDE9A_uc002zbs.2_Missense_Mutation_p.K311T|PDE9A_uc002zbr.2_Missense_Mutation_p.K311T|PDE9A_uc002zbt.2_Missense_Mutation_p.K390T|PDE9A_uc002zbu.2_Missense_Mutation_p.K384T|PDE9A_uc002zbv.2_Missense_Mutation_p.K358T|PDE9A_uc002zbw.2_Missense_Mutation_p.K301T|PDE9A_uc002zbx.2_Missense_Mutation_p.K458T|PDE9A_uc002zby.2_Missense_Mutation_p.K301T|PDE9A_uc002zbz.2_Missense_Mutation_p.K410T|PDE9A_uc002zca.2_Missense_Mutation_p.K477T|PDE9A_uc002zcb.2_Missense_Mutation_p.K492T|PDE9A_uc002zcc.2_Missense_Mutation_p.K417T|PDE9A_uc002zcd.2_Missense_Mutation_p.K432T|PDE9A_uc002zce.2_Missense_Mutation_p.K451T|PDE9A_uc002zcf.2_Missense_Mutation_p.K311T|PDE9A_uc002zcg.2_Missense_Mutation_p.K311T|PDE9A_uc002zch.2_Missense_Mutation_p.K301T	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	518	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						GGGTTCATCAAGTTTGTCCTG	0.478												
PFKL	5211	broad.mit.edu	37	21	45732916	45732916	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:45732916A>G	uc002zel.2	+	5	542	c.483A>G	c.(481-483)CTA>CTG	p.L161L	PFKL_uc002zek.2_Silent_p.L208L|PFKL_uc011afd.1_Silent_p.L208L	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	161					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		TCGCGGGCCTAGTGGGCTCCA	0.622												
ADARB1	104	broad.mit.edu	37	21	46604862	46604862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46604862G>A	uc002zgy.2	+	9	1976	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	ADARB1_uc002zgr.2_Missense_Mutation_p.R514H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R474H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R474H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	514	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CACCCAAATCGTAAAGCAAGA	0.453												
COL18A1	80781	broad.mit.edu	37	21	46910218	46910218	+	Silent	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46910218G>T	uc011afs.1	+	19	3255	c.3234G>T	c.(3232-3234)GGG>GGT	p.G1078G	COL18A1_uc002zhg.2_Silent_p.G663G|COL18A1_uc002zhi.2_Silent_p.G843G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1078	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGTCCCCGGGTTCCCCGGCC	0.662												
SLC19A1	6573	broad.mit.edu	37	21	46950884	46950884	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46950884G>A	uc002zhl.1	-	4	1070	c.951C>T	c.(949-951)GGC>GGT	p.G317G	SLC19A1_uc010gpy.1_Silent_p.G317G|SLC19A1_uc011aft.1_Silent_p.G277G|SLC19A1_uc002zhm.1_Silent_p.G317G|SLC19A1_uc010gpz.1_Silent_p.G196G	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	317	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACGTGATGGCGCCTGAGAGGG	0.672												
DGCR14	8220	broad.mit.edu	37	22	19121815	19121815	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:19121815G>A	uc002zou.2	-	10	1362	c.1325C>T	c.(1324-1326)CCG>CTG	p.P442L	DGCR14_uc002zot.2_Missense_Mutation_p.P363L|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	442					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					GCCAGGCGCCGGTGTGCTTGT	0.682												
ZDHHC8	29801	broad.mit.edu	37	22	20128995	20128995	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:20128995A>G	uc002zrq.2	+	9	1173	c.1067A>G	c.(1066-1068)AAG>AGG	p.K356R	ZDHHC8_uc002zrr.1_Missense_Mutation_p.K356R|ZDHHC8_uc010gsa.2_Missense_Mutation_p.K162R	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	356	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GCCATGTACAAGTTTAGGCCG	0.647												
PI4KA	5297	broad.mit.edu	37	22	21107256	21107256	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:21107256G>A	uc002zsz.3	-	25	2979	c.2748C>T	c.(2746-2748)AAC>AAT	p.N916N		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	916					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGTGGTTGAAGTTCACCAACA	0.493												
RTDR1	27156	broad.mit.edu	37	22	23401893	23401893	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:23401893T>G	uc002zwt.2	-	7	952	c.794A>C	c.(793-795)AAG>ACG	p.K265T		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	265							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGCCGCATACTTCCCTGCAGG	0.632												
MN1	4330	broad.mit.edu	37	22	28195419	28195419	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:28195419T>G	uc003adj.2	-	1	2068	c.1113A>C	c.(1111-1113)CAA>CAC	p.Q371H		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	371							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGCACGAATTTTGTCGGACTA	0.512			T	ETV6	AML|meningioma							
SLC5A1	6523	broad.mit.edu	37	22	32480543	32480543	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:32480543A>C	uc003amc.2	+	8	1014	c.782A>C	c.(781-783)GAC>GCC	p.D261A	SLC5A1_uc011alz.1_Missense_Mutation_p.D134A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	261	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						CCAAGGGCCGACTCCTTCCAC	0.512												
RFPL3	10738	broad.mit.edu	37	22	32756703	32756703	+	Missense_Mutation	SNP	C	C	T	rs73166367	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:32756703C>T	uc003amj.2	+	2	1043	c.838C>T	c.(838-840)CGC>TGC	p.R280C	RFPL3_uc010gwn.2_Missense_Mutation_p.R251C|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	280	B30.2/SPRY.						zinc ion binding	p.R251C(1)		ovary(1)	1						GGAGCCACTGCGCCCATTTTT	0.478												
RASD2	23551	broad.mit.edu	37	22	35947700	35947700	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:35947700A>C	uc003anx.2	+	3	627	c.422A>C	c.(421-423)AAG>ACG	p.K141T	RASD2_uc003any.2_Missense_Mutation_p.K141T	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	141	GTP (By similarity).				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						TGTGGCAACAAGAACGACCAC	0.632												
APOL1	8542	broad.mit.edu	37	22	36661318	36661318	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:36661318C>T	uc003apf.2	+	6	604	c.436C>T	c.(436-438)CGG>TGG	p.R146W	APOL1_uc011amn.1_Missense_Mutation_p.R23W|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.R162W|APOL1_uc011amo.1_Missense_Mutation_p.R23W|APOL1_uc011amp.1_Missense_Mutation_p.R146W|APOL1_uc011amq.1_Missense_Mutation_p.R128W|APOL1_uc010gwx.2_Missense_Mutation_p.R23W	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	146					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						AGAGTTTCCTCGGTTGAAAAG	0.468												
TRIOBP	11078	broad.mit.edu	37	22	38119513	38119513	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:38119513A>T	uc003atr.2	+	7	1221	c.950A>T	c.(949-951)GAG>GTG	p.E317V	TRIOBP_uc003atu.2_Missense_Mutation_p.E145V|TRIOBP_uc003atq.1_Missense_Mutation_p.E317V|TRIOBP_uc003ats.1_Missense_Mutation_p.E145V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	317					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TCCACCCAAGAGGACACCCCT	0.602												
GTPBP1	9567	broad.mit.edu	37	22	39122387	39122387	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:39122387A>C	uc003awg.2	+	8	1497	c.1343A>C	c.(1342-1344)AAG>ACG	p.K448T		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	448					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					ATCCATCGCAAGCGCATGCCT	0.557												
RANGAP1	5905	broad.mit.edu	37	22	41657532	41657532	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:41657532T>C	uc003azs.2	-	5	2003	c.533A>G	c.(532-534)AAG>AGG	p.K178R	RANGAP1_uc003azt.2_Missense_Mutation_p.K178R|RANGAP1_uc003azu.2_Missense_Mutation_p.K178R|RANGAP1_uc011aoz.1_Intron	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GGCCAGAGGCTTGCCTTGGGC	0.587												
ZC3H7B	23264	broad.mit.edu	37	22	41739541	41739541	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:41739541A>T	uc003azw.2	+	13	1636	c.1420A>T	c.(1420-1422)ACT>TCT	p.T474S	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	490					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCCCCGGCCCACTAAGACCAG	0.692												
FAM109B	150368	broad.mit.edu	37	22	42473316	42473316	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:42473316A>G	uc003bbz.2	+	3	206	c.19A>G	c.(19-21)AGT>GGT	p.S7G	C22orf32_uc003bca.2_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	7					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						GAACGAGAGGAGTGTAGCCCA	0.517												
CPNE9	151835	broad.mit.edu	37	3	9767687	9767687	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:9767687T>C	uc003bsd.2	+	17	1467	c.1296T>C	c.(1294-1296)ACT>ACC	p.T432T		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	432	VWFA.									ovary(2)	2	Medulloblastoma(99;0.227)					TCATCATCACTGATGGGGTCA	0.428												
TMEM111	55831	broad.mit.edu	37	3	10012268	10012268	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:10012268T>G	uc003bun.2	-	6	751	c.572A>C	c.(571-573)AAT>ACT	p.N191T	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.N191T	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	191						integral to membrane					0						CTTCTTACCATTATCTTGGCC	0.408												
C3orf31	132001	broad.mit.edu	37	3	11885576	11885576	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:11885576T>C	uc003bwh.2	-	2	487	c.245A>G	c.(244-246)AAG>AGG	p.K82R	C3orf31_uc003bwj.2_Missense_Mutation_p.K82R|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.K82R|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	82					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						CGTGATAATCTTGGGCCCTAA	0.418												
TMEM43	79188	broad.mit.edu	37	3	14172352	14172352	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:14172352G>C	uc003byk.2	+	3	447	c.193G>C	c.(193-195)GCT>CCT	p.A65P	TMEM43_uc003byl.1_5'UTR	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	65	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						AACCTCATTGGCTGAGGGGCT	0.577												
FGD5	152273	broad.mit.edu	37	3	14862660	14862660	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:14862660A>G	uc003bzc.2	+	1	2192	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	FGD5_uc011avk.1_Silent_p.E694E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	694					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GGATTCTGGAAGTTGACCGGA	0.517												
HACL1	26061	broad.mit.edu	37	3	15604933	15604933	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:15604933G>C	uc003caf.2	-	16	1796	c.1636C>G	c.(1636-1638)CTA>GTA	p.L546V	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.L519V|HACL1_uc011avt.1_Missense_Mutation_p.L486V|HACL1_uc003cag.2_Missense_Mutation_p.L190V|HACL1_uc011avu.1_Missense_Mutation_p.L464V|HACL1_uc010hep.2_Missense_Mutation_p.L305V	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	546					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GTGTCTGCTAGGCTCTGCCTC	0.438												
THRB	7068	broad.mit.edu	37	3	24164390	24164390	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:24164390T>G	uc003ccx.3	-	11	1720	c.1371A>C	c.(1369-1371)GAA>GAC	p.E457D	THRB_uc010hfe.2_Missense_Mutation_p.E457D|THRB_uc003ccy.3_Missense_Mutation_p.E457D|THRB_uc003ccz.3_Missense_Mutation_p.E452D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	457	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCTCGAACACTTCCAAGAACA	0.473												
TRIM71	131405	broad.mit.edu	37	3	32860324	32860324	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:32860324C>T	uc003cff.2	+	1	815	c.752C>T	c.(751-753)GCG>GTG	p.A251V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	251					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCAGCAGCGGCGCAGCAGCTC	0.716												
ACVR2B	93	broad.mit.edu	37	3	38519713	38519713	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:38519713T>C	uc003cif.2	+	4	476	c.452T>C	c.(451-453)CTC>CCC	p.L151P	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	151	Helical; (Potential).				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)		GGCCTTTCCCTCATCGTCCTG	0.647												
HHATL	57467	broad.mit.edu	37	3	42742227	42742227	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:42742227A>G	uc003clw.2	-	3	239	c.92T>C	c.(91-93)CTT>CCT	p.L31P	HHATL_uc003clx.2_Missense_Mutation_p.L31P	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	31	Helical; (Potential).				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGAAGCCTCAAGGAGGCCCCG	0.627												
CCR1	1230	broad.mit.edu	37	3	46245656	46245656	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:46245656A>G	uc003cph.1	-	2	220	c.149T>C	c.(148-150)GTT>GCT	p.V50A	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	50	Helical; Name=1; (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GATGTTTCCAACCAGGCCAAT	0.532												
DHX30	22907	broad.mit.edu	37	3	47868925	47868925	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:47868925A>C	uc003cru.2	+	5	639	c.213A>C	c.(211-213)AAA>AAC	p.K71N	DHX30_uc003crs.2_Missense_Mutation_p.K32N|DHX30_uc003crt.2_Missense_Mutation_p.K32N|DHX30_uc010hjr.1_Missense_Mutation_p.K99N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	71	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACATGCAAAAGACAAACTAG	0.428												
MAP4	4134	broad.mit.edu	37	3	47957952	47957952	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:47957952T>G	uc003csb.2	-	7	1891	c.1365A>C	c.(1363-1365)GAA>GAC	p.E455D	MAP4_uc003csc.3_Missense_Mutation_p.E455D|MAP4_uc011bbf.1_Missense_Mutation_p.E432D|MAP4_uc003csf.3_Missense_Mutation_p.E472D	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	455	12.|17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCACGTTGGTTTCCGGGGGCA	0.507												
APEH	327	broad.mit.edu	37	3	49719161	49719161	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:49719161T>C	uc003cxf.2	+	16	1845	c.1445T>C	c.(1444-1446)CTT>CCT	p.L482P	APEH_uc010hkw.1_Missense_Mutation_p.L482P	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	482					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTGGCCTTGACTTTGAA	0.617												
PXK	54899	broad.mit.edu	37	3	58381485	58381485	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:58381485A>C	uc003djz.1	+	9	920	c.821A>C	c.(820-822)GAG>GCG	p.E274A	PXK_uc003djx.1_Missense_Mutation_p.E274A|PXK_uc003djy.1_Missense_Mutation_p.E257A|PXK_uc003dka.1_Missense_Mutation_p.E274A|PXK_uc003dkb.1_Missense_Mutation_p.E191A|PXK_uc003dkc.1_Missense_Mutation_p.E257A|PXK_uc011bfe.1_Missense_Mutation_p.E241A|PXK_uc010hnj.1_Missense_Mutation_p.E241A|PXK_uc003dkd.1_Missense_Mutation_p.E137A|PXK_uc010hnk.1_Missense_Mutation_p.E48A	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	274	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CAAATATTAGAGGTAAGAGGT	0.348												
FAM107A	11170	broad.mit.edu	37	3	58555474	58555474	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:58555474C>T	uc003dkm.2	-	3	673	c.114G>A	c.(112-114)GTG>GTA	p.V38V	FAM107A_uc003dko.2_Silent_p.V69V|FAM107A_uc003dkn.2_Silent_p.V38V|FAM107A_uc010hnm.2_Silent_p.V66V|FAM107A_uc003dkp.1_Silent_p.V38V	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	38					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GAGAGGCCTTCACGGGGTTCA	0.632												
CNTN3	5067	broad.mit.edu	37	3	74383939	74383939	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:74383939C>A	uc003dpm.1	-	12	1695	c.1615G>T	c.(1615-1617)GGG>TGG	p.G539W		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	539	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAAGGGCCCCATTGAAATAC	0.353												
CNTN3	5067	broad.mit.edu	37	3	74385746	74385746	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:74385746A>C	uc003dpm.1	-	11	1508	c.1428T>G	c.(1426-1428)ACT>ACG	p.T476T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	476	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCAGGTGTAAGTTCCAGCAT	0.353												
ROBO1	6091	broad.mit.edu	37	3	78988071	78988071	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:78988071C>A	uc003dqe.2	-	4	387	c.179G>T	c.(178-180)CGT>CTT	p.R60L	ROBO1_uc003dqb.2_Missense_Mutation_p.R21L|ROBO1_uc003dqc.2_Missense_Mutation_p.R21L|ROBO1_uc003dqd.2_Missense_Mutation_p.R21L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	60	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGACGAAGACGGGAGCCTGC	0.393												
OR5H15	403274	broad.mit.edu	37	3	97887578	97887578	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:97887578T>G	uc011bgu.1	+	1	35	c.35T>G	c.(34-36)TTT>TGT	p.F12C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTGACAGAGTTTGTTCTCACA	0.383												
BBX	56987	broad.mit.edu	37	3	107491762	107491762	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:107491762A>C	uc010hpr.2	+	11	1521	c.1194A>C	c.(1192-1194)GAA>GAC	p.E398D	BBX_uc003dwk.3_Missense_Mutation_p.E398D|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E419D|BBX_uc003dwm.3_Missense_Mutation_p.E398D|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAGTTAGAAGAAGATCACA	0.333												
ARHGAP31	57514	broad.mit.edu	37	3	119134116	119134116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:119134116C>T	uc003ecj.3	+	12	3872	c.3340C>T	c.(3340-3342)CCC>TCC	p.P1114S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1114					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTGCCATTCCCATTGCTGA	0.532												
DTX3L	151636	broad.mit.edu	37	3	122288550	122288550	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:122288550T>C	uc003efk.2	+	3	1703	c.1614T>C	c.(1612-1614)GCT>GCC	p.A538A	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	538					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		CCAAAGCAGCTTCTCCGCCAC	0.448												
SEMA5B	54437	broad.mit.edu	37	3	122629068	122629068	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:122629068A>G	uc003efz.1	-	23	3682	c.3378T>C	c.(3376-3378)ACT>ACC	p.T1126T	SEMA5B_uc011bju.1_Silent_p.T1032T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.T104T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1126	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGTAGTAAGTAGTCGTGT	0.547												
MYLK	4638	broad.mit.edu	37	3	123366187	123366187	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:123366187T>C	uc003ego.2	-	27	4785	c.4503A>G	c.(4501-4503)AAA>AAG	p.K1501K	MYLK_uc010hrr.2_Intron|MYLK_uc011bjv.1_Silent_p.K301K|MYLK_uc011bjw.1_Silent_p.K1501K|MYLK_uc003egp.2_Silent_p.K1432K|MYLK_uc003egq.2_Silent_p.K1501K|MYLK_uc003egr.2_Silent_p.K1432K|MYLK_uc003egs.2_Silent_p.K1325K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1501	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTTTCTCTTTTGCTGAAT	0.453												
KALRN	8997	broad.mit.edu	37	3	124160832	124160832	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:124160832A>C	uc003ehg.2	+	19	3360	c.3233A>C	c.(3232-3234)AAG>ACG	p.K1078T	KALRN_uc010hrv.1_Missense_Mutation_p.K1069T|KALRN_uc003ehf.1_Missense_Mutation_p.K1078T|KALRN_uc011bjy.1_Missense_Mutation_p.K1069T|KALRN_uc003ehh.1_Missense_Mutation_p.K424T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1078					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGTTTCTCAAGTACATCCAC	0.582												
MCM2	4171	broad.mit.edu	37	3	127334796	127334796	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:127334796C>G	uc003ejp.2	+	9	1577	c.1520C>G	c.(1519-1521)CCA>CGA	p.P507R	MCM2_uc011bkm.1_Missense_Mutation_p.P377R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.P460R	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	507	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CCCAAAAACCCAGGTGAGCAC	0.527												
TMCC1	23023	broad.mit.edu	37	3	129389847	129389847	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:129389847T>G	uc003emz.3	-	5	1338	c.837A>C	c.(835-837)CAA>CAC	p.Q279H	TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.Q100H|TMCC1_uc010htg.2_Missense_Mutation_p.Q165H	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	279	Potential.					integral to membrane				skin(1)	1						TCTCAAAGACTTGCTTGATGC	0.478												
COL6A6	131873	broad.mit.edu	37	3	130287082	130287082	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:130287082T>G	uc010htl.2	+	5	2066	c.2035T>G	c.(2035-2037)TTC>GTC	p.F679V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	679	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCTCAACAGATTCATGTCCCA	0.458												
COL6A6	131873	broad.mit.edu	37	3	130327795	130327795	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:130327795T>C	uc010htl.2	+	21	4770	c.4739T>C	c.(4738-4740)CTT>CCT	p.L1580P	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1580	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCCCTGGGACTTAAGGGCCCT	0.453												
TF	7018	broad.mit.edu	37	3	133486878	133486878	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:133486878T>A	uc003epu.1	+	18	3220	c.1492T>A	c.(1492-1494)TTT>ATT	p.F498I	TF_uc011blt.1_Missense_Mutation_p.F371I|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.F498I	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	498	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CACAGATGAATTTTTCAGTGA	0.448												
TF	7018	broad.mit.edu	37	3	133486889	133486889	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:133486889A>C	uc003epu.1	+	18	3231	c.1503A>C	c.(1501-1503)GAA>GAC	p.E501D	TF_uc011blt.1_Missense_Mutation_p.E374D|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.E501D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	501	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTCAGTGAAGGTTGTGCCC	0.468												
DZIP1L	199221	broad.mit.edu	37	3	137822740	137822740	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:137822740T>G	uc003erq.2	-	2	437	c.74A>C	c.(73-75)AAG>ACG	p.K25T	DZIP1L_uc003err.1_Missense_Mutation_p.K25T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	25						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						AGGCTGAAACTTGAAGGTGGG	0.612												
TRIM42	287015	broad.mit.edu	37	3	140406864	140406864	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:140406864A>C	uc003eto.1	+	3	1531	c.1340A>C	c.(1339-1341)AAG>ACG	p.K447T		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	447	COS.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CAGTCAGCCAAGATCCTGGTG	0.542												
TRPC1	7220	broad.mit.edu	37	3	142455271	142455271	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:142455271T>G	uc003evc.2	+	2	359	c.223T>G	c.(223-225)TTG>GTG	p.L75V	TRPC1_uc003evb.2_Missense_Mutation_p.L75V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	75	Cytoplasmic (Potential).|ANK 1.				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TTCAGGTGACTTGAACATAAA	0.328												
SIAH2	6478	broad.mit.edu	37	3	150460122	150460122	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:150460122A>C	uc003eyi.2	-	2	1408	c.781T>G	c.(781-783)TTT>GTT	p.F261V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	261	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGTAGGCAAAGTTCTCGGCT	0.557												
WDR49	151790	broad.mit.edu	37	3	167246946	167246946	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:167246946A>C	uc003fev.1	-	10	1550	c.1244T>G	c.(1243-1245)TTT>TGT	p.F415C	WDR49_uc003feu.1_Missense_Mutation_p.F240C|WDR49_uc011bpd.1_Missense_Mutation_p.F479C|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	415										large_intestine(1)|ovary(1)|skin(1)	3						ATGAGCCAAAAATTCAGCCAG	0.383												
LRRC31	79782	broad.mit.edu	37	3	169557949	169557949	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:169557949T>G	uc003fgc.1	-	9	1557	c.1480A>C	c.(1480-1482)AAT>CAT	p.N494H	LRRC31_uc010hwp.1_Missense_Mutation_p.N438H	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	494										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TCTCGAAAATTTGATGGTCGA	0.453												
TNIK	23043	broad.mit.edu	37	3	170802031	170802031	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:170802031T>C	uc003fhh.2	-	26	3427	c.3082A>G	c.(3082-3084)ACC>GCC	p.T1028A	TNIK_uc003fhi.2_Missense_Mutation_p.T973A|TNIK_uc003fhj.2_Missense_Mutation_p.T999A|TNIK_uc003fhk.2_Missense_Mutation_p.T1020A|TNIK_uc003fhl.2_Missense_Mutation_p.T944A|TNIK_uc003fhm.2_Missense_Mutation_p.T965A|TNIK_uc003fhn.2_Missense_Mutation_p.T991A|TNIK_uc003fho.2_Missense_Mutation_p.T936A|TNIK_uc003fhg.2_Missense_Mutation_p.T206A|TNIK_uc003fhp.2_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1028	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGAATGTTGGTTGGGTTTACA	0.413												
PLD1	5337	broad.mit.edu	37	3	171406503	171406503	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:171406503T>G	uc003fhs.2	-	14	1618	c.1502A>C	c.(1501-1503)AAG>ACG	p.K501T	PLD1_uc003fht.2_Missense_Mutation_p.K501T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	501	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTGACCCGCTTCACACTGCC	0.463												
CCDC39	339829	broad.mit.edu	37	3	180364998	180364998	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:180364998A>C	uc010hxe.2	-	11	1511	c.1396T>G	c.(1396-1398)TCA>GCA	p.S466A	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	466	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)			TTTAACCGTGACATTCTCCGT	0.313												
IL1RAP	3556	broad.mit.edu	37	3	190326835	190326835	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:190326835A>C	uc003fsm.1	+	5	608	c.402A>C	c.(400-402)AAA>AAC	p.K134N	IL1RAP_uc003fsk.2_Missense_Mutation_p.K134N|IL1RAP_uc003fsl.2_Missense_Mutation_p.K134N|IL1RAP_uc010hzf.2_5'UTR|IL1RAP_uc010hzg.1_Missense_Mutation_p.K134N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.K134N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.K134N	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	134	Extracellular (Potential).				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TTGTTCAAAAAGACAGCTGTT	0.353												
ATP13A5	344905	broad.mit.edu	37	3	193081085	193081085	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:193081085T>G	uc011bsq.1	-	3	324	c.324A>C	c.(322-324)GAA>GAC	p.E108D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	108					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCACCAGGGATTCTTCCCACT	0.403												
C3orf43	255798	broad.mit.edu	37	3	196234867	196234867	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:196234867T>A	uc003fws.2	-	3	693	c.536A>T	c.(535-537)CAG>CTG	p.Q179L	C3orf43_uc003fwr.2_Missense_Mutation_p.Q171L	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	179						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		CAAACTGTCCTGCAGAGCCTG	0.438												
C3orf43	255798	broad.mit.edu	37	3	196234879	196234879	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:196234879T>G	uc003fws.2	-	3	681	c.524A>C	c.(523-525)AAC>ACC	p.N175T	C3orf43_uc003fwr.2_Missense_Mutation_p.N167T	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	175						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		CAGAGCCTGGTTCTTTACCAT	0.453												
NOP14	8602	broad.mit.edu	37	4	2964964	2964964	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:2964964T>G	uc003ggj.1	-	1	155	c.83A>C	c.(82-84)AAC>ACC	p.N28T	GRK4_uc003ggn.1_5'Flank|GRK4_uc003ggo.1_5'Flank|GRK4_uc003ggp.1_5'Flank|GRK4_uc003ggq.1_5'Flank|NOP14_uc003ggk.3_Missense_Mutation_p.N28T|NOP14_uc003ggl.2_Missense_Mutation_p.N28T|NOP14_uc010icq.1_RNA|GRK4_uc003ggm.2_5'Flank	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	28					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CGGATTGGAGTTGGCCTTcgc	0.547												
RGS12	6002	broad.mit.edu	37	4	3318489	3318489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:3318489G>A	uc003ggw.2	+	2	1496	c.592G>A	c.(592-594)GAA>AAA	p.E198K	RGS12_uc003ggu.2_Missense_Mutation_p.E198K|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.E198K|RGS12_uc003ggx.1_Missense_Mutation_p.E198K	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	198						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTAAGGAGGAAATATCAAA	0.368												
CRMP1	1400	broad.mit.edu	37	4	5853180	5853180	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:5853180T>C	uc003gip.2	-	6	596	c.495A>G	c.(493-495)CAA>CAG	p.Q165Q	CRMP1_uc003gin.1_Silent_p.Q77Q|CRMP1_uc003giq.2_Silent_p.Q165Q|CRMP1_uc003gir.2_Silent_p.Q160Q|CRMP1_uc003gis.2_Silent_p.Q279Q	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	165					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCATGTAGACTTGGAAGGAAT	0.443												
AFAP1	60312	broad.mit.edu	37	4	7802299	7802299	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:7802299T>C	uc003gkg.1	-	10	1409	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	AFAP1_uc011bwk.1_Missense_Mutation_p.D379G	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	379	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GTCGGTCCTGTCCTTGTGGAA	0.557												
CLNK	116449	broad.mit.edu	37	4	10503023	10503023	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:10503023A>T	uc003gmo.3	-	18	1134	c.997T>A	c.(997-999)TTG>ATG	p.L333M		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	333	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						TCTCGGACCAAGAAACTACCA	0.423												
C1QTNF7	114905	broad.mit.edu	37	4	15443895	15443895	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:15443895A>C	uc011bxb.1	+	3	569	c.342A>C	c.(340-342)GAA>GAC	p.E114D	C1QTNF7_uc003gno.2_Missense_Mutation_p.E121D|C1QTNF7_uc003gnp.2_Missense_Mutation_p.E114D	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	114	Collagen-like.					collagen					0						AGAAAGGAGAAGTAGGTCCAA	0.552												
SLC34A2	10568	broad.mit.edu	37	4	25674816	25674816	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:25674816A>T	uc003grr.2	+	10	1237	c.1156A>T	c.(1156-1158)ATC>TTC	p.I386F	SLC34A2_uc003grs.2_Missense_Mutation_p.I385F|SLC34A2_uc010iev.2_Missense_Mutation_p.I385F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	386	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GATTGTCAAGATCCTGGGCTC	0.522												
TBC1D1	23216	broad.mit.edu	37	4	38138919	38138919	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:38138919A>T	uc003gtb.2	+	20	3813	c.3470A>T	c.(3469-3471)GAG>GTG	p.E1157V	TBC1D1_uc011byd.1_Missense_Mutation_p.E1148V|TBC1D1_uc010ifd.2_Missense_Mutation_p.E944V|TBC1D1_uc003gtd.2_Missense_Mutation_p.E169V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1157						nucleus	Rab GTPase activator activity			ovary(1)	1						AGCGACCGGGAGCCTGAGTGC	0.647												
NSUN7	79730	broad.mit.edu	37	4	40762498	40762498	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:40762498A>C	uc003gvj.3	+	3	841	c.346A>C	c.(346-348)AGT>CGT	p.S116R	NSUN7_uc003gvh.2_Missense_Mutation_p.S116R|NSUN7_uc003gvi.3_Missense_Mutation_p.S116R	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TATCTTCCCAAGTACCACAAT	0.289												
RASL11B	65997	broad.mit.edu	37	4	53731608	53731608	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:53731608T>A	uc003gzt.2	+	4	563	c.383T>A	c.(382-384)CTC>CAC	p.L128H		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	128	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			AGCTATGAACTCATCAGCCAG	0.552												
HOPX	84525	broad.mit.edu	37	4	57522115	57522115	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:57522115C>T	uc011cad.1	-	2	287	c.52G>A	c.(52-54)GAG>AAG	p.E18K	HOPX_uc003hcc.2_Missense_Mutation_p.E36K|HOPX_uc003hca.2_Missense_Mutation_p.E36K|HOPX_uc003hcb.2_Missense_Mutation_p.E18K|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E18K	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN	HOP homeobox isoform b	18	Homeobox; atypical.				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTGTACTCCAGGATTTCC	0.677												
G3BP2	9908	broad.mit.edu	37	4	76571575	76571575	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:76571575C>G	uc003hir.2	-	11	1288	c.1123G>C	c.(1123-1125)GGT>CGT	p.G375R	G3BP2_uc003his.2_Missense_Mutation_p.G375R|G3BP2_uc003hit.2_Missense_Mutation_p.G342R	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	375	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCACAAAACCAAAATTTGGA	0.343												
CCDC158	339965	broad.mit.edu	37	4	77292583	77292583	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:77292583A>C	uc003hkb.3	-	9	1289	c.1136T>G	c.(1135-1137)CTT>CGT	p.L379R		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	379	Potential.							p.L379F(1)		skin(3)|ovary(2)|pancreas(1)	6						CAGCTTTTGAAGTTGATCATC	0.363												
SEPT11	55752	broad.mit.edu	37	4	77941688	77941688	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:77941688T>C	uc003hkj.2	+	7	980	c.818T>C	c.(817-819)CTT>CCT	p.L273P	SEPT11_uc010ijh.1_Missense_Mutation_p.L265P|SEPT11_uc011cca.1_Missense_Mutation_p.L283P|SEPT11_uc003hkk.1_Missense_Mutation_p.L73P	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	273					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						TTTGTGAAACTTCGAGAGATG	0.473												
FRAS1	80144	broad.mit.edu	37	4	79394700	79394700	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:79394700G>C	uc003hlb.2	+	53	8071	c.7631G>C	c.(7630-7632)AGC>ACC	p.S2544T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2543	Calx-beta 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AATGTGGTCAGCGACAATGTC	0.413												
FRAS1	80144	broad.mit.edu	37	4	79437061	79437061	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:79437061T>C	uc003hlb.2	+	66	10723	c.10283T>C	c.(10282-10284)CTC>CCC	p.L3428P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3423	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ACCATCCAGCTCTACAAACAC	0.547												
BMP3	651	broad.mit.edu	37	4	81967099	81967099	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:81967099A>C	uc003hmg.3	+	2	844	c.524A>C	c.(523-525)AAC>ACC	p.N175T		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						TTCAGCAGAAACCAAAGTCAA	0.453												
C4orf17	84103	broad.mit.edu	37	4	100463127	100463127	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:100463127A>G	uc003huw.2	+	9	1264	c.941A>G	c.(940-942)GAA>GGA	p.E314G	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	314											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CCTGTTGCAGAATATTTCAGC	0.383												
NHEDC1	150159	broad.mit.edu	37	4	103853399	103853399	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:103853399T>C	uc003hww.2	-	7	833	c.711A>G	c.(709-711)CAA>CAG	p.Q237Q	NHEDC1_uc003hwu.2_Silent_p.Q237Q|NHEDC1_uc010ilm.2_Silent_p.Q4Q|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	237						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		ATCCATTTTCTTGCAGCACCA	0.378												
CENPE	1062	broad.mit.edu	37	4	104080416	104080416	+	Silent	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:104080416T>A	uc003hxb.1	-	22	2442	c.2352A>T	c.(2350-2352)GTA>GTT	p.V784V	CENPE_uc003hxc.1_Silent_p.V759V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	784	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTTATGAACTACTTCAGAAA	0.318												
NPNT	255743	broad.mit.edu	37	4	106861764	106861764	+	Missense_Mutation	SNP	G	G	A	rs141847563		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:106861764G>A	uc003hya.2	+	7	939	c.734G>A	c.(733-735)GGA>GAA	p.G245E	NPNT_uc011cfc.1_Missense_Mutation_p.G262E|NPNT_uc011cfd.1_Missense_Mutation_p.G275E|NPNT_uc011cfe.1_Missense_Mutation_p.G275E|NPNT_uc010ilt.1_Missense_Mutation_p.G245E|NPNT_uc011cff.1_Missense_Mutation_p.G245E|NPNT_uc010ilu.1_Missense_Mutation_p.G141E	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	245	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTAAAGAAGGATACCAGGGT	0.443												
SYNPO2	171024	broad.mit.edu	37	4	119951710	119951710	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:119951710G>A	uc003icm.3	+	4	1976	c.1780G>A	c.(1780-1782)GGG>AGG	p.G594R	SYNPO2_uc010ina.2_Missense_Mutation_p.G594R|SYNPO2_uc010inb.2_Missense_Mutation_p.G594R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.G522R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	594	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						ACCCTTCCCAGGGTCTGTGAA	0.542												
PCDH18	54510	broad.mit.edu	37	4	138452673	138452673	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:138452673A>T	uc003ihe.3	-	1	957	c.570T>A	c.(568-570)ACT>ACA	p.T190T	PCDH18_uc003ihf.3_Silent_p.T183T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	190	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TGGCTCCATCAGTCCTGGTCC	0.488												
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:140811117C>T	uc003ihz.1	-	2	2225	c.1473G>A	c.(1471-1473)CAG>CAA	p.Q491Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.284												
RNF150	57484	broad.mit.edu	37	4	141870500	141870500	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:141870500T>C	uc003iio.1	-	3	1416	c.762A>G	c.(760-762)AAA>AAG	p.K254K	RNF150_uc010iok.1_Silent_p.K212K|RNF150_uc003iip.1_Silent_p.K254K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	254	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					TGCTGATGGCTTTCTTTGCTG	0.403												
GYPE	2996	broad.mit.edu	37	4	144801595	144801595	+	Silent	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:144801595G>T	uc003ijj.2	-	2	161	c.105C>A	c.(103-105)GTC>GTA	p.V35V	GYPE_uc010ion.2_RNA|GYPE_uc003ijk.3_Silent_p.V35V	NM_198682	NP_941391	P15421	GLPE_HUMAN	glycophorin E precursor	35	Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(180;0.158)					AACTCTTTGTGACTGAAGAAG	0.368												
TIGD4	201798	broad.mit.edu	37	4	153690741	153690741	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:153690741T>G	uc003imy.2	-	2	2198	c.1416A>C	c.(1414-1416)AAA>AAC	p.K472N		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	472					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					TTGCCTCAGATTTTGATGGTA	0.353												
KIAA0922	23240	broad.mit.edu	37	4	154505988	154505988	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:154505988A>T	uc003inm.3	+	12	1113	c.1061_splice	c.e12-2	p.A354_splice	KIAA0922_uc010ipp.2_Silent_p.A354A|KIAA0922_uc010ipq.2_Silent_p.A206A|KIAA0922_uc010ips.1_5'UTR	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2							integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACCACAAAGCAGCTACATCAT	0.343												
RBM46	166863	broad.mit.edu	37	4	155719202	155719202	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:155719202T>G	uc003ioo.2	+	3	564	c.391T>G	c.(391-393)TTT>GTT	p.F131V	RBM46_uc011cim.1_Missense_Mutation_p.F131V|RBM46_uc003iop.1_Missense_Mutation_p.F131V	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	131	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				ACCAGGGAAGTTTATTGGTGT	0.333												
FNIP2	57600	broad.mit.edu	37	4	159790415	159790415	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:159790415A>C	uc003iqe.3	+	13	2810	c.2627A>C	c.(2626-2628)AAC>ACC	p.N876T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	876	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGGGATGACAACAAGAAGGCC	0.602												
TRIM61	391712	broad.mit.edu	37	4	165890990	165890990	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:165890990A>C	uc003iqw.2	-	3	776	c.165T>G	c.(163-165)TTT>TTG	p.F55L		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	55	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAAAGTGGCAAAAGGGGCAGG	0.448												
CLCN3	1182	broad.mit.edu	37	4	170628052	170628052	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:170628052T>G	uc003isi.2	+	11	2293	c.1784T>G	c.(1783-1785)GTT>GGT	p.V595G	CLCN3_uc003ish.2_Missense_Mutation_p.V595G|CLCN3_uc011cjz.1_Missense_Mutation_p.V578G|CLCN3_uc011cka.1_Missense_Mutation_p.V568G|CLCN3_uc003isj.1_Missense_Mutation_p.V568G	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	595					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCCCTGGTGGTTATTGTTTTT	0.443												
MFAP3L	9848	broad.mit.edu	37	4	170912682	170912682	+	Silent	SNP	A	A	C	rs142121641		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:170912682A>C	uc003isp.3	-	3	1255	c.1077T>G	c.(1075-1077)CCT>CCG	p.P359P	MFAP3L_uc003isn.3_Silent_p.P256P	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	359	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CATCGGTAGAAGGTTCTGCAG	0.512												
NEIL3	55247	broad.mit.edu	37	4	178274525	178274525	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:178274525A>G	uc003iut.2	+	8	1220	c.1103A>G	c.(1102-1104)AAT>AGT	p.N368S	NEIL3_uc010irs.2_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	368					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TACCCGTGTAATACTTTTGGA	0.368								BER_DNA_glycosylases				
CYP4V2	285440	broad.mit.edu	37	4	187117203	187117203	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:187117203A>T	uc003iyw.3	+	3	678	c.374A>T	c.(373-375)AAG>ATG	p.K125M		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	125					response to stimulus|visual perception	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				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCTATGTACAAGTTTTTAGAA	0.363												
ADAMTS16	170690	broad.mit.edu	37	5	5146481	5146481	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:5146481T>G	uc003jdl.2	+	3	552	c.414T>G	c.(412-414)ACT>ACG	p.T138T	ADAMTS16_uc003jdk.1_Silent_p.T138T|ADAMTS16_uc003jdj.1_Silent_p.T138T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CTGTGCAGACTTTACCGCCAG	0.527												
NSUN2	54888	broad.mit.edu	37	5	6611109	6611109	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:6611109C>T	uc003jdu.2	-	11	1250	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	NSUN2_uc003jdt.2_Silent_p.P159P|NSUN2_uc011cmk.1_Silent_p.P360P|NSUN2_uc003jdv.2_Silent_p.P159P	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	395						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTGGGTCCTTCGGAGGGAACA	0.592												
MARCH6	10299	broad.mit.edu	37	5	10397414	10397414	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:10397414T>G	uc003jet.1	+	10	1054	c.871T>G	c.(871-873)TTC>GTC	p.F291V	MARCH6_uc011cmu.1_Missense_Mutation_p.F243V|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.F186V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	291	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GGAACATGTCTTCTGGGTGGT	0.284												
CTNND2	1501	broad.mit.edu	37	5	11117639	11117639	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:11117639T>A	uc003jfa.1	-	13	2345	c.2200A>T	c.(2200-2202)AGA>TGA	p.R734*	CTNND2_uc010itt.2_Nonsense_Mutation_p.R643*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R397*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R301*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R301*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	734	ARM 6.				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						TCACACTCTCTCATCCTTCTG	0.522												
PRLR	5618	broad.mit.edu	37	5	35066132	35066132	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:35066132A>G	uc003jjm.2	-	10	1458	c.928T>C	c.(928-930)TTG>CTG	p.L310L	PRLR_uc003jjg.1_Silent_p.L310L|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.L209L	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	310	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCACCAGCAAGTCCTCATAG	0.433												
IL7R	3575	broad.mit.edu	37	5	35876392	35876392	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:35876392A>C	uc003jjs.2	+	8	1273	c.1184A>C	c.(1183-1185)AAG>ACG	p.K395T	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	395	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAGTGGCAAGAATGGGCCT	0.542												
C5orf42	65250	broad.mit.edu	37	5	37173971	37173971	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:37173971T>G	uc011cpa.1	-	32	6288	c.6057A>C	c.(6055-6057)CAA>CAC	p.Q2019H	C5orf42_uc011coy.1_Missense_Mutation_p.Q519H|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1094H|C5orf42_uc003jkr.1_Missense_Mutation_p.Q52H	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2019										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGCAGGTGGTTGTGAAGCAA	0.418												
RAD17	5884	broad.mit.edu	37	5	68692326	68692326	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:68692326A>C	uc003jwo.2	+	13	1620	c.1558A>C	c.(1558-1560)AGT>CGT	p.S520R	RAD17_uc003jwg.2_Missense_Mutation_p.S509R|RAD17_uc003jwh.2_Missense_Mutation_p.S509R|RAD17_uc003jwi.2_Missense_Mutation_p.S509R|RAD17_uc003jwj.2_Missense_Mutation_p.S509R|RAD17_uc003jwk.2_Missense_Mutation_p.S509R|RAD17_uc003jwl.2_Missense_Mutation_p.S509R|RAD17_uc003jwm.2_Missense_Mutation_p.S344R|RAD17_uc003jwn.2_Missense_Mutation_p.S423R|RAD17_uc003jwp.2_Missense_Mutation_p.S80R	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	520	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGGAGGATCAAGTTTTCGACC	0.323								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
MAP1B	4131	broad.mit.edu	37	5	71494245	71494245	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:71494245A>C	uc003kbw.3	+	5	5304	c.5063A>C	c.(5062-5064)GAC>GCC	p.D1688A	MAP1B_uc010iyw.1_Missense_Mutation_p.D1705A|MAP1B_uc010iyx.1_Missense_Mutation_p.D1562A|MAP1B_uc010iyy.1_Missense_Mutation_p.D1562A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1688						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACTGAAGTGGACTACAGTCCT	0.493												
IQGAP2	10788	broad.mit.edu	37	5	75757491	75757491	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:75757491A>G	uc003kek.2	+	2	365	c.143A>G	c.(142-144)AAA>AGA	p.K48R		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	48	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGGAAGCCAAAAGGTAAGAT	0.468												
WDR41	55255	broad.mit.edu	37	5	76732183	76732183	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:76732183T>G	uc003kff.1	-	12	1417	c.1130A>C	c.(1129-1131)AAA>ACA	p.K377T	WDR41_uc011csy.1_Missense_Mutation_p.K319T|WDR41_uc011csz.1_Missense_Mutation_p.K322T	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	377											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCTGGCTTGTTTGCTGACTCT	0.373												
SSBP2	23635	broad.mit.edu	37	5	80738511	80738511	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:80738511A>C	uc003kho.2	-	13	1021	c.810T>G	c.(808-810)ACT>ACG	p.T270T	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Silent_p.T158T|SSBP2_uc003khn.2_Silent_p.T144T|SSBP2_uc003khp.2_Silent_p.T278T|SSBP2_uc011ctp.1_Silent_p.T250T|SSBP2_uc011ctq.1_Silent_p.T248T|SSBP2_uc011ctr.1_Silent_p.T240T	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	270	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CATTCATTAAAGTATACATGT	0.294												
GPR98	84059	broad.mit.edu	37	5	89948273	89948273	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:89948273T>C	uc003kju.2	+	19	3623	c.3527T>C	c.(3526-3528)GTT>GCT	p.V1176A	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1176	Calx-beta 9.|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)		TCAGGAACTGTTAACTTCATG	0.383												
GPR98	84059	broad.mit.edu	37	5	89986632	89986632	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:89986632T>G	uc003kju.2	+	31	6821	c.6725T>G	c.(6724-6726)CTT>CGT	p.L2242R	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2242	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)		ATTACTAAACTTATTGTAGAG	0.408												
FAM172A	83989	broad.mit.edu	37	5	93300165	93300165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:93300165G>A	uc010jbd.2	-	5	580	c.373C>T	c.(373-375)CCA>TCA	p.P125S	FAM172A_uc011cuf.1_Missense_Mutation_p.P79S|FAM172A_uc011cug.1_Missense_Mutation_p.P79S|FAM172A_uc011cuh.1_Missense_Mutation_p.P42S|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.P125S	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	125						endoplasmic reticulum|extracellular region					0						TGACTTACTGGAATAGATACT	0.269												
LNPEP	4012	broad.mit.edu	37	5	96364142	96364142	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:96364142T>G	uc003kmv.1	+	18	3497	c.2983T>G	c.(2983-2985)TTC>GTC	p.F995V	LNPEP_uc003kmw.1_Missense_Mutation_p.F981V	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	995	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGAGGCAACCTTCCGGCTTCG	0.448												
SEMA6A	57556	broad.mit.edu	37	5	115822533	115822533	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:115822533A>T	uc010jck.2	-	10	1583	c.874T>A	c.(874-876)TAT>AAT	p.Y292N	SEMA6A_uc003krx.3_Missense_Mutation_p.Y292N	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	292	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATGTTGAAATAAAAATGAGAG	0.458												
SLC12A2	6558	broad.mit.edu	37	5	127448545	127448545	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:127448545A>G	uc003kus.2	+	2	960	c.796A>G	c.(796-798)ACT>GCT	p.T266A	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.T266A	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	266	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAGAAAGTACTCCAACCAG	0.343												
KDM3B	51780	broad.mit.edu	37	5	137762680	137762680	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:137762680A>C	uc003lcy.1	+	18	4628	c.4428A>C	c.(4426-4428)GAA>GAC	p.E1476D	KDM3B_uc010jew.1_Missense_Mutation_p.E1132D|KDM3B_uc011cys.1_Missense_Mutation_p.E508D	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TACGGTCAGAAGATGGGCAGC	0.488												
PCDHA10	56139	broad.mit.edu	37	5	140236835	140236835	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140236835A>C	uc003lhx.2	+	1	1202	c.1202A>C	c.(1201-1203)AAG>ACG	p.K401T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.K401T|PCDHA10_uc011dad.1_Missense_Mutation_p.K401T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	401	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTACAAGAATTACTAC	0.597												
PCDHA10	56139	broad.mit.edu	37	5	140237019	140237019	+	Silent	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140237019C>T	uc003lhx.2	+	1	1386	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.F462F|PCDHA10_uc011dad.1_Silent_p.F462F	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	462	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTGTTCGTGAAGGAGA	0.667												
PCDHA11	56138	broad.mit.edu	37	5	140248808	140248808	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140248808A>C	uc003lia.2	+	1	978	c.120A>C	c.(118-120)AAA>AAC	p.K40N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.K40N	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	40	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGGCCAAACACGGCACCT	0.667												
PCDHB16	57717	broad.mit.edu	37	5	140563353	140563353	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140563353A>G	uc003liv.2	+	1	2374	c.1219A>G	c.(1219-1221)AGA>GGA	p.R407G	PCDHB16_uc010jfw.1_Missense_Mutation_p.R79G	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	407	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTAACGGAGAGAGCACTCGA	0.463												
PCDHGB4	8641	broad.mit.edu	37	5	140768378	140768378	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140768378A>C	uc003lkc.1	+	1	927	c.927A>C	c.(925-927)GAA>GAC	p.E309D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E309D	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	309	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAAGAAGTCAAAGAAT	0.403												
CSF1R	1436	broad.mit.edu	37	5	149457791	149457791	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:149457791A>C	uc003lrl.2	-	4	808	c.613T>G	c.(613-615)TTG>GTG	p.L205V	CSF1R_uc011dcd.1_Missense_Mutation_p.L57V|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L205V|CSF1R_uc011dce.1_Missense_Mutation_p.L205V|CSF1R_uc011dcf.1_Missense_Mutation_p.L205V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	205	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACCAGTGTCAAGGCTGGGGGC	0.597												
FAT2	2196	broad.mit.edu	37	5	150948213	150948213	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:150948213A>C	uc003lue.3	-	1	293	c.280T>G	c.(280-282)TTC>GTC	p.F94V	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.F94V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	94	Extracellular (Potential).|Cadherin 1.				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)			ATTCTTAGGAAGCAGAAGTTG	0.512												
KIF4B	285643	broad.mit.edu	37	5	154394999	154394999	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:154394999T>C	uc010jih.1	+	1	1740	c.1580T>C	c.(1579-1581)GTT>GCT	p.V527A		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	527	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)			AAGGAGGTGGTTGAGTTGAAT	0.473												
CYFIP2	26999	broad.mit.edu	37	5	156752563	156752563	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:156752563A>T	uc003lwq.2	+	19	2037	c.1899A>T	c.(1897-1899)CGA>CGT	p.R633R	CYFIP2_uc011ddn.1_Silent_p.R607R|CYFIP2_uc011ddo.1_Silent_p.R437R|CYFIP2_uc003lwr.2_Silent_p.R633R|CYFIP2_uc003lws.2_Silent_p.R633R|CYFIP2_uc003lwt.2_Silent_p.R536R|CYFIP2_uc011ddp.1_Silent_p.R367R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	658					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATGGGCCGACGAATCCAGT	0.517												
DOCK2	1794	broad.mit.edu	37	5	169141079	169141079	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:169141079T>G	uc003maf.2	+	18	1787	c.1707T>G	c.(1705-1707)CCT>CCG	p.P569P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P61P|DOCK2_uc010jjl.1_Silent_p.P87P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	569	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACCCTTCCTTCTTATCGAC	0.562												
KCNMB1	3779	broad.mit.edu	37	5	169810813	169810813	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:169810813T>G	uc003maq.1	-	3	576	c.176A>C	c.(175-177)AAC>ACC	p.N59T	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Missense_Mutation_p.N59T	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	59	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCCCTGATGTTGGTCTCAAT	0.572												
UBTD2	92181	broad.mit.edu	37	5	171638907	171638907	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:171638907T>A	uc003mbp.1	-	3	758	c.632A>T	c.(631-633)AAG>ATG	p.K211M		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	211	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTGGGATCTTCAGCTCTTC	0.507												
ZNF354C	30832	broad.mit.edu	37	5	178505885	178505885	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:178505885A>T	uc003mju.2	+	5	567	c.452A>T	c.(451-453)GAG>GTG	p.E151V		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GATTCGCATGAGAAAACCATC	0.388												
EXOC2	55770	broad.mit.edu	37	6	564622	564622	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:564622T>G	uc003mtd.2	-	15	1724	c.1590A>C	c.(1588-1590)GAA>GAC	p.E530D	EXOC2_uc003mte.2_Missense_Mutation_p.E530D|EXOC2_uc011dho.1_Missense_Mutation_p.E125D	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	530					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACTGCTTGGCTTCCCCATCCC	0.557												
KIAA0319	9856	broad.mit.edu	37	6	24596784	24596784	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:24596784A>C	uc011djo.1	-	3	355	c.118T>G	c.(118-120)TTG>GTG	p.L40V	KIAA0319_uc011djp.1_5'UTR|KIAA0319_uc003neh.1_Missense_Mutation_p.L40V|KIAA0319_uc011djq.1_Missense_Mutation_p.L31V|KIAA0319_uc011djr.1_Missense_Mutation_p.L40V	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	40	MANSC.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						GTGGTTTCCAAGTTAGGTGAA	0.522												
OR14J1	442191	broad.mit.edu	37	6	29274471	29274471	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29274471T>G	uc011dln.1	+	1	5	c.5T>G	c.(4-6)GTC>GGC	p.V2G		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGACTATGGTCAATTTGACT	0.388												
OR2H2	7932	broad.mit.edu	37	6	29555920	29555920	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29555920T>G	uc003nmr.1	+	1	238	c.199T>G	c.(199-201)TTG>GTG	p.L67V	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	67	Helical; Name=2; (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTCTCCTTCTTGGACCTCTG	0.532												
GABBR1	2550	broad.mit.edu	37	6	29581264	29581264	+	Splice_Site	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29581264T>A	uc003nmt.3	-	12	1660	c.1324_splice	c.e12-1	p.T442_splice	GABBR1_uc003nmp.3_Splice_Site_p.T325_splice|GABBR1_uc003nms.3_Splice_Site_p.T325_splice|GABBR1_uc003nmu.3_Splice_Site_p.T380_splice|GABBR1_uc011dlr.1_Splice_Site_p.T265_splice|GABBR1_uc011dls.1_Splice_Site_p.T442_splice	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CTGGGATGTCTTGGGAGGAAA	0.493												
RNF39	80352	broad.mit.edu	37	6	30039131	30039131	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30039131G>A	uc003npe.2	-	4	1082	c.1020C>T	c.(1018-1020)CGC>CGT	p.R340R	RNF39_uc003npd.2_Intron	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	340	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGCGGCCGCCGCGGCCCTCCA	0.741												
PRR3	80742	broad.mit.edu	37	6	30529893	30529893	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30529893T>C	uc003nqi.1	+	3	818	c.452T>C	c.(451-453)GTT>GCT	p.V151A	PRR3_uc003nqj.1_Missense_Mutation_p.V130A	NM_025263	NP_079539	P79522	PRR3_HUMAN	proline-rich protein 3 isoform a	151							nucleic acid binding|zinc ion binding				0						GACCCCCAGGTTATGGAAGGT	0.473												
ABCF1	23	broad.mit.edu	37	6	30545225	30545225	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30545225A>C	uc003nql.2	+	2	208	c.113A>C	c.(112-114)AAA>ACA	p.K38T	ABCF1_uc003nqk.2_Missense_Mutation_p.K38T|ABCF1_uc003nqm.2_Missense_Mutation_p.K38T|ABCF1_uc010jsb.2_Missense_Mutation_p.K38T	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	38					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						AAGAAGATCAAAAAAACGGTG	0.428												
VARS	7407	broad.mit.edu	37	6	31747777	31747777	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:31747777A>G	uc003nxe.2	-	26	3502	c.3079T>C	c.(3079-3081)TTG>CTG	p.L1027L	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1027					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)	CTTCTCACCAAGTAGACATCA	0.602												
HSPA1L	3305	broad.mit.edu	37	6	31779492	31779492	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:31779492T>C	uc003nxh.2	-	2	441	c.258A>G	c.(256-258)CAA>CAG	p.Q86Q	HSPA1L_uc010jte.2_Silent_p.Q86Q	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	86					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						TCATATCTGCTTGTACAACAG	0.443												
GPSM3	63940	broad.mit.edu	37	6	32159496	32159496	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:32159496A>T	uc003oay.3	-	3	728	c.335T>A	c.(334-336)CTC>CAC	p.L112H	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.L89H|GPSM3_uc003oaz.2_Missense_Mutation_p.L112H	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	112	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTGGTGACTGAGGATAGTGCT	0.592												
ITPR3	3710	broad.mit.edu	37	6	33662849	33662849	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:33662849A>G	uc011drk.1	+	57	8153	c.7934A>G	c.(7933-7935)GAG>GGG	p.E2645G	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2645	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGCTCAACGAGCTCAAGGAG	0.607												
GRM4	2914	broad.mit.edu	37	6	34059816	34059816	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:34059816A>C	uc003oir.3	-	2	750	c.580T>G	c.(580-582)TTC>GTC	p.F194V	GRM4_uc011dsn.1_Missense_Mutation_p.F194V|GRM4_uc010jvh.2_Missense_Mutation_p.F194V|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.F113V|GRM4_uc011dsl.1_Missense_Mutation_p.F54V|GRM4_uc003oiq.2_Missense_Mutation_p.F61V|GRM4_uc011dsm.1_Missense_Mutation_p.F25V	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	194	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CGGGAGAAGAAGTCGTAGCGG	0.637												
TAF11	6882	broad.mit.edu	37	6	34846436	34846436	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:34846436T>G	uc003ojw.1	-	5	652	c.567A>C	c.(565-567)GAA>GAC	p.E189D	UHRF1BP1_uc010jvm.1_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	TBP-associated factor 11	189					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0						TTCTAACGGCTTCCCTCATAT	0.423												
KIAA0240	23506	broad.mit.edu	37	6	42823647	42823647	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:42823647A>C	uc003osn.1	+	9	2251	c.2100A>C	c.(2098-2100)AAA>AAC	p.K700N	KIAA0240_uc011duw.1_Missense_Mutation_p.K700N|KIAA0240_uc003osp.1_Missense_Mutation_p.K700N	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	700										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGCTAACGAAAGGAGCTTTGT	0.378												
CUL9	23113	broad.mit.edu	37	6	43163991	43163991	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:43163991T>C	uc003ouk.2	+	10	2648	c.2573T>C	c.(2572-2574)CTG>CCG	p.L858P	CUL9_uc003oul.2_Missense_Mutation_p.L858P|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	858					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						ATCCTGATGCTGAATACTGAG	0.577												
POLR1C	9533	broad.mit.edu	37	6	43488378	43488378	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:43488378A>C	uc003ovn.2	+	7	728	c.671A>C	c.(670-672)AAG>ACG	p.K224T	POLR1C_uc003ovo.1_Missense_Mutation_p.K224T	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	224					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 dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GATCATGCCAAGTTTTCACCA	0.527												
CDC5L	988	broad.mit.edu	37	6	44392215	44392215	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:44392215T>C	uc003oxl.2	+	11	1723	c.1464T>C	c.(1462-1464)AAT>AAC	p.N488N		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	488	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCTAAGAATGATTTTGAAA	0.418												
CYP39A1	51302	broad.mit.edu	37	6	46563772	46563772	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:46563772T>G	uc003oyf.1	-	8	1221	c.1017A>C	c.(1015-1017)AAA>AAC	p.K339N	CYP39A1_uc011dwa.1_Missense_Mutation_p.K319N|CYP39A1_uc010jzd.1_Missense_Mutation_p.K167N	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	339					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						CACCAGGAGCTTTTAAACGAA	0.343												
PGK2	5232	broad.mit.edu	37	6	49754349	49754349	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:49754349T>G	uc003ozu.2	-	1	659	c.552A>C	c.(550-552)AAA>AAC	p.K184N		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	184					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					ATCCGGATGCTTTATGGGGCA	0.483												
DEFB112	245915	broad.mit.edu	37	6	50011385	50011385	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:50011385C>A	uc011dws.1	-	2	245	c.245G>T	c.(244-246)TGC>TTC	p.C82F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	82					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					TGTCACGCAGCAATGAGTTGT	0.428												
GSTA1	2938	broad.mit.edu	37	6	52657694	52657694	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:52657694T>C	uc003paz.2	-	6	618	c.506A>G	c.(505-507)GAG>GGG	p.E169G		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	169	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGAGTCAAGCTCCTCGACGTA	0.517												
BAI3	577	broad.mit.edu	37	6	69640552	69640552	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:69640552G>A	uc003pev.3	+	4	1307	c.859G>A	c.(859-861)GCA>ACA	p.A287T	BAI3_uc010kak.2_Missense_Mutation_p.A287T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	287	Extracellular (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)				TAAATTTATGGCACAAACTGG	0.348												
LCA5	167691	broad.mit.edu	37	6	80196883	80196883	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:80196883T>G	uc003pix.2	-	8	2367	c.1932A>C	c.(1930-1932)AAA>AAC	p.K644N	LCA5_uc003piy.2_Missense_Mutation_p.K644N	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	644					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTCTGCTGCCTTTATTCCCAG	0.428												
LIN28B	389421	broad.mit.edu	37	6	105526475	105526475	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:105526475T>C	uc003pqv.1	+	4	773	c.570T>C	c.(568-570)ACT>ACC	p.T190T	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	190					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GCACTTCAACTCTCCCTCGAG	0.557												
POPDC3	64208	broad.mit.edu	37	6	105609491	105609491	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:105609491T>G	uc003prb.2	-	2	696	c.294A>C	c.(292-294)CAA>CAC	p.Q98H	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	98	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGCTGCGAACTTGATATGCAA	0.448												
DDO	8528	broad.mit.edu	37	6	110734556	110734556	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:110734556T>G	uc003puc.2	-	2	198	c.194A>C	c.(193-195)AAG>ACG	p.K65T	C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.K65T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	37	FAD (By similarity).				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGGAGTAAACTTGTCTGAAAT	0.517												
LAMA4	3910	broad.mit.edu	37	6	112460474	112460474	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:112460474G>T	uc003pvu.2	-	24	3439	c.3130C>A	c.(3130-3132)CAG>AAG	p.Q1044K	LAMA4_uc003pvv.2_Missense_Mutation_p.Q1037K|LAMA4_uc003pvt.2_Missense_Mutation_p.Q1037K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1044					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCCGACTCTGAGTGAAGGCC	0.463												
RFX6	222546	broad.mit.edu	37	6	117232144	117232144	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:117232144T>G	uc003pxm.2	+	7	782	c.719T>G	c.(718-720)CTT>CGT	p.L240R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	240					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						ACTGGAACACTTCTTCCAGAA	0.348												
RFX6	222546	broad.mit.edu	37	6	117240445	117240445	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:117240445T>G	uc003pxm.2	+	11	1231	c.1168T>G	c.(1168-1170)TTA>GTA	p.L390V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	390					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						AACATCTTTCTTACATCTTGC	0.333												
LAMA2	3908	broad.mit.edu	37	6	129748963	129748963	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:129748963C>A	uc003qbn.2	+	41	6037	c.5932C>A	c.(5932-5934)CTT>ATT	p.L1978I	LAMA2_uc003qbo.2_Missense_Mutation_p.L1978I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1978	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCAGGATTCTTAACGAAGC	0.373												
ENPP3	5169	broad.mit.edu	37	6	132047242	132047242	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:132047242A>G	uc003qcu.3	+	21	2202	c.1855A>G	c.(1855-1857)AAC>GAC	p.N619D	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.N619D	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	619	Extracellular (Potential).|Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACTGCAGAAGAACGTGGACCA	0.408												
TAAR5	9038	broad.mit.edu	37	6	132910580	132910580	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:132910580A>G	uc003qdk.2	-	1	298	c.246T>C	c.(244-246)TTT>TTC	p.F82F		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	82	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGACCCAGAAACATGTCAG	0.582												
VNN1	8876	broad.mit.edu	37	6	133015209	133015209	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:133015209A>C	uc003qdo.2	-	3	474	c.454T>G	c.(454-456)TGT>GGT	p.C152G		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	152	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCAGGGGGACACTGAGGATCA	0.443												
HBS1L	10767	broad.mit.edu	37	6	135287535	135287535	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:135287535A>C	uc003qez.2	-	17	2182	c.1975T>G	c.(1975-1977)TTT>GTT	p.F659V	HBS1L_uc003qey.2_Missense_Mutation_p.F495V|HBS1L_uc011ecy.1_Missense_Mutation_p.F383V|HBS1L_uc011ecz.1_Missense_Mutation_p.F495V|HBS1L_uc011eda.1_Missense_Mutation_p.F617V	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	659					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGCTCTTTAAAGTCTTTATAT	0.363												
PEX7	5191	broad.mit.edu	37	6	137187842	137187842	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:137187842T>G	uc003qhd.2	+	6	706	c.604T>G	c.(604-606)TTG>GTG	p.L202V	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	202	WD 4.				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GGCAGAAATCTTGAGTTGTGA	0.393												
KIAA1244	57221	broad.mit.edu	37	6	138576856	138576856	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:138576856C>T	uc003qhu.2	+	10	1054	c.1054C>T	c.(1054-1056)CTC>TTC	p.L352F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	352					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCGAGTGCTGCTCTACCCCCC	0.602												
C6orf72	116254	broad.mit.edu	37	6	149901803	149901803	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:149901803T>G	uc003qmq.1	+	6	688	c.661T>G	c.(661-663)TTA>GTA	p.L221V	C6orf72_uc010kie.1_Missense_Mutation_p.L101V	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	221	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TGAAGATGTTTTACCTGGCAA	0.408												
SYNE1	23345	broad.mit.edu	37	6	152719782	152719782	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:152719782A>C	uc010kiw.2	-	49	7924	c.7322T>G	c.(7321-7323)GTT>GGT	p.V2441G	SYNE1_uc003qot.3_Missense_Mutation_p.V2448G|SYNE1_uc003qou.3_Missense_Mutation_p.V2441G|SYNE1_uc010kjb.1_Missense_Mutation_p.V2424G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2441	Spectrin 4.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTCTAGAACTTTGCTGTC	0.433										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152793444	152793444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:152793444C>T	uc010kiw.2	-	15	2057	c.1455G>A	c.(1453-1455)ATG>ATA	p.M485I	SYNE1_uc003qot.3_Missense_Mutation_p.M492I|SYNE1_uc003qou.3_Missense_Mutation_p.M485I|SYNE1_uc010kjb.1_Missense_Mutation_p.M468I|SYNE1_uc003qpa.1_Missense_Mutation_p.M485I|SYNE1_uc003qox.1_Missense_Mutation_p.M1I|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Missense_Mutation_p.M52I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	485	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTCTCGGCCATGTCCTCTA	0.383										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155500529	155500529	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:155500529A>C	uc003qqb.2	+	14	3919	c.2646A>C	c.(2644-2646)GAA>GAC	p.E882D	TIAM2_uc003qqe.2_Missense_Mutation_p.E882D|TIAM2_uc010kjj.2_Missense_Mutation_p.E415D|TIAM2_uc003qqf.2_Missense_Mutation_p.E258D|TIAM2_uc011efl.1_Missense_Mutation_p.E218D|TIAM2_uc003qqg.2_Missense_Mutation_p.E194D	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	882					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATGAAATAGAAGTCTTTCCAC	0.368												
EZR	7430	broad.mit.edu	37	6	159205739	159205739	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:159205739A>C	uc003qrt.3	-	5	703	c.488T>G	c.(487-489)CTT>CGT	p.L163R	EZR_uc011efs.1_Missense_Mutation_p.L131R|EZR_uc003qru.3_Missense_Mutation_p.L163R	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	163	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTCCCTGGTAAGTTTGTGCTG	0.542												
LPA	4018	broad.mit.edu	37	6	161007491	161007491	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:161007491A>C	uc003qtl.2	-	26	4239	c.4119T>G	c.(4117-4119)CCT>CCG	p.P1373P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3881	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTTCTTCAGAAGGAAGCTCTG	0.478												
SMOC2	64094	broad.mit.edu	37	6	168999604	168999604	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:168999604A>G	uc003qws.1	+	8	764	c.744A>G	c.(742-744)CCA>CCG	p.P248P	SMOC2_uc003qwr.1_Silent_p.P259P	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	248	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCTACAAGCCAGTGCAGTGCC	0.632												
PMS2	5395	broad.mit.edu	37	7	6026456	6026456	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:6026456T>G	uc003spl.2	-	11	2027	c.1940A>C	c.(1939-1941)AAG>ACG	p.K647T	PMS2_uc003spj.2_Missense_Mutation_p.K541T|PMS2_uc003spk.2_Missense_Mutation_p.K512T|PMS2_uc011jwl.1_Missense_Mutation_p.K512T|PMS2_uc010ktg.2_Missense_Mutation_p.K336T|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	647					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGCCCTAAACTTCCTGTAATT	0.353			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
DNAH11	8701	broad.mit.edu	37	7	21628926	21628926	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:21628926A>C	uc003svc.2	+	12	2105	c.2074A>C	c.(2074-2076)AGT>CGT	p.S692R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	692	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGAATGGAAAAGTAATGTGGA	0.343									Kartagener_syndrome			
FAM126A	84668	broad.mit.edu	37	7	23015837	23015837	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:23015837A>G	uc003svm.3	-	7	873	c.618T>C	c.(616-618)ATT>ATC	p.I206I	FAM126A_uc003svn.3_Silent_p.I62I	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	206						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ACCTTGAACAAATTTGACACA	0.323												
TRA2A	29896	broad.mit.edu	37	7	23545857	23545857	+	Missense_Mutation	SNP	C	C	T	rs138326382		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:23545857C>T	uc003swi.2	-	6	884	c.670G>A	c.(670-672)GGC>AGC	p.G224S	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.G123S|TRA2A_uc011jzd.1_Missense_Mutation_p.G123S	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	224	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						cctccaccgccgccgcctcct	0.254												
PDE1C	5137	broad.mit.edu	37	7	31912981	31912981	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:31912981T>A	uc003tcm.1	-	6	1002	c.533A>T	c.(532-534)GAG>GTG	p.E178V	PDE1C_uc003tcn.1_Missense_Mutation_p.E178V|PDE1C_uc003tco.1_Missense_Mutation_p.E238V|PDE1C_uc003tcr.2_Missense_Mutation_p.E178V|PDE1C_uc003tcs.2_Missense_Mutation_p.E178V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	178					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCCACTGGCCTCATTGAGGGA	0.448												
TBX20	57057	broad.mit.edu	37	7	35289646	35289646	+	Missense_Mutation	SNP	T	T	G	rs79990622	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:35289646T>G	uc011kas.1	-	2	308	c.297A>C	c.(295-297)AAA>AAC	p.K99N		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	99						nucleus	DNA binding			central_nervous_system(1)	1						TGCAGGCAATTTTGGCCATTT	0.582												
ELMO1	9844	broad.mit.edu	37	7	36917661	36917661	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:36917661T>C	uc003tfk.1	-	19	2083	c.1776A>G	c.(1774-1776)GAA>GAG	p.E592E	ELMO1_uc003tfi.1_Silent_p.E112E|ELMO1_uc003tfj.1_Silent_p.E112E|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.E496E|ELMO1_uc010kxg.1_Silent_p.E592E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	592	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GAGGACTCTCTTCTAAGTCTC	0.468												
TXNDC3	51314	broad.mit.edu	37	7	37889886	37889886	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:37889886A>G	uc003tfn.2	+	3	390	c.18A>G	c.(16-18)CGA>CGG	p.R6R		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	6	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GCAAAAAACGAGAAGTCCAGT	0.333									Kartagener_syndrome			
CDK13	8621	broad.mit.edu	37	7	40134436	40134436	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:40134436T>G	uc003thh.3	+	14	4678	c.4396T>G	c.(4396-4398)TTA>GTA	p.L1466V	CDK13_uc003thi.3_Missense_Mutation_p.L1406V|CDK13_uc003thj.2_Missense_Mutation_p.L517V|CDK13_uc003thk.2_Missense_Mutation_p.L399V	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1466					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TGGTGGTAACTTACAGGAAAA	0.507												
HECW1	23072	broad.mit.edu	37	7	43546793	43546793	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:43546793A>C	uc003tid.1	+	22	4294	c.3689A>C	c.(3688-3690)AAG>ACG	p.K1230T	HECW1_uc011kbi.1_Missense_Mutation_p.K1196T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1230					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TTTGAGGCCAAGCTCCGCAAT	0.488												
PKD1L1	168507	broad.mit.edu	37	7	47852835	47852835	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:47852835T>G	uc003tny.1	-	49	7230	c.7230A>C	c.(7228-7230)GAA>GAC	p.E2410D	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.E137D	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2410	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGCCTCCAACTTCGGGACTAC	0.527												
PTPN12	5782	broad.mit.edu	37	7	77221537	77221537	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:77221537A>G	uc003ugh.2	+	6	547	c.456A>G	c.(454-456)GAA>GAG	p.E152E	PTPN12_uc011kgp.1_Silent_p.E33E|PTPN12_uc011kgq.1_Silent_p.E22E	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	152	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGTATGGAGAAGACCCCATAA	0.284												
PHTF2	57157	broad.mit.edu	37	7	77569864	77569864	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:77569864T>G	uc003ugs.3	+	14	1886	c.1760T>G	c.(1759-1761)CTC>CGC	p.L587R	PHTF2_uc003ugq.3_Missense_Mutation_p.L549R|PHTF2_uc010ldv.2_Missense_Mutation_p.L549R|PHTF2_uc003ugt.3_Missense_Mutation_p.L553R|PHTF2_uc003ugu.3_Missense_Mutation_p.L549R	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTGCAAAACTCTTTGGACAT	0.323												
PCLO	27445	broad.mit.edu	37	7	82764843	82764843	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:82764843A>C	uc003uhx.2	-	3	2312	c.2023T>G	c.(2023-2025)TCA>GCA	p.S675A	PCLO_uc003uhv.2_Missense_Mutation_p.S675A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	621	Pro-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						TGTGGGGATGATTTGCTCACT	0.522												
ZCWPW1	55063	broad.mit.edu	37	7	99999537	99999537	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:99999537T>C	uc003uut.2	-	17	1847	c.1599A>G	c.(1597-1599)CAA>CAG	p.Q533Q	ZCWPW1_uc011kjq.1_Silent_p.Q413Q|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Intron|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_RNA	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	533							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAATTCCCTTGGCCTTCTT	0.517												
MUC17	140453	broad.mit.edu	37	7	100681013	100681013	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:100681013A>C	uc003uxp.1	+	3	6369	c.6316A>C	c.(6316-6318)AGT>CGT	p.S2106R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2106	Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACTAACAAGTATACCTCT	0.498												
MUC17	140453	broad.mit.edu	37	7	100684288	100684288	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:100684288T>G	uc003uxp.1	+	3	9644	c.9591T>G	c.(9589-9591)ACT>ACG	p.T3197T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3197	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGACCACTTCTACTGAAG	0.473												
CDHR3	222256	broad.mit.edu	37	7	105615425	105615425	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:105615425A>G	uc003vdl.3	+	2	290	c.182A>G	c.(181-183)CAG>CGG	p.Q61R	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.Q48R|CDHR3_uc011klt.1_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	61	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGATTTCCCCAGATAGTCAAC	0.458												
IMMP2L	83943	broad.mit.edu	37	7	111161449	111161449	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:111161449A>G	uc003vfq.1	-	2	498	c.55T>C	c.(55-57)TTC>CTC	p.F19L	IMMP2L_uc010ljr.1_Missense_Mutation_p.F19L|IMMP2L_uc003vfr.2_Missense_Mutation_p.F19L	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	19	Helical; (Potential).				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GCCACAAAGAAGCCTTTACAA	0.438												
PPP1R3A	5506	broad.mit.edu	37	7	113559001	113559001	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:113559001T>G	uc010ljy.1	-	1	82	c.51A>C	c.(49-51)GAA>GAC	p.E17D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	17					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATTAGGAACTTCTAAAAAAT	0.398												
WNT2	7472	broad.mit.edu	37	7	116955197	116955197	+	Silent	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:116955197C>A	uc003viz.2	-	3	816	c.516G>T	c.(514-516)GTG>GTT	p.V172V	WNT2_uc003vja.2_Silent_p.V76V	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	172					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		cctttGCATCCACAAATGCGC	0.433												
C7orf58	79974	broad.mit.edu	37	7	120770304	120770304	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:120770304A>G	uc003vjq.3	+	12	1980	c.1533A>G	c.(1531-1533)CAA>CAG	p.Q511Q	C7orf58_uc003vjr.1_Silent_p.Q511Q|C7orf58_uc003vjs.3_Silent_p.Q511Q|C7orf58_uc003vjt.3_Silent_p.Q291Q|C7orf58_uc010lkk.1_Silent_p.Q291Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	511						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TATTTGAACAATTTCAGTTCA	0.363												
PTPRZ1	5803	broad.mit.edu	37	7	121650657	121650657	+	Silent	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:121650657T>A	uc003vjy.2	+	12	1952	c.1557T>A	c.(1555-1557)ACT>ACA	p.T519T	PTPRZ1_uc003vjz.2_Silent_p.T519T|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	519	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TTTCCTTGACTTCTCAGACTG	0.403												
LRGUK	136332	broad.mit.edu	37	7	133884171	133884171	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:133884171C>T	uc003vrm.1	+	14	1761	c.1745C>T	c.(1744-1746)GCA>GTA	p.A582V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	582	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTAATCAATGCAGGTTGGTAA	0.303												
KIAA1549	57670	broad.mit.edu	37	7	138602902	138602902	+	Silent	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:138602902G>A	uc011kql.1	-	2	1519	c.1470C>T	c.(1468-1470)ATC>ATT	p.I490I	KIAA1549_uc003vuk.3_Silent_p.I440I|KIAA1549_uc011kqj.1_Silent_p.I490I	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	490						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAAGTGGGACGATAGGTCTGG	0.458			O	BRAF	pilocytic astrocytoma							
KIAA1549	57670	broad.mit.edu	37	7	138603717	138603717	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:138603717G>C	uc011kql.1	-	2	704	c.655C>G	c.(655-657)CCA>GCA	p.P219A	KIAA1549_uc003vuk.3_Missense_Mutation_p.P169A|KIAA1549_uc011kqj.1_Missense_Mutation_p.P219A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	219						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TATGCCGCTGGTTGTCGCGTT	0.517			O	BRAF	pilocytic astrocytoma							
ADCK2	90956	broad.mit.edu	37	7	140378991	140378991	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:140378991T>G	uc003vvy.1	+	3	1295	c.1117T>G	c.(1117-1119)TTC>GTC	p.F373V	ADCK2_uc003vvz.2_Missense_Mutation_p.F373V	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	373	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TCTAGAACACTTCCAGGTCAA	0.493												
BRAF	673	broad.mit.edu	37	7	140494168	140494168	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:140494168T>C	uc003vwc.3	-	8	1141	c.1080A>G	c.(1078-1080)CGA>CGG	p.R360R		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	360					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGGATCGGTCTCGTTGCCCAA	0.428		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
OR9A2	135924	broad.mit.edu	37	7	142723730	142723730	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:142723730A>C	uc003wcc.1	-	1	490	c.490T>G	c.(490-492)TTC>GTC	p.F164V		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					GATTTGCGGAAGGTAAACTGA	0.403												
CUL1	8454	broad.mit.edu	37	7	148484124	148484124	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:148484124A>C	uc010lpg.2	+	13	1917	c.1391A>C	c.(1390-1392)AAG>ACG	p.K464T	CUL1_uc003wey.2_Missense_Mutation_p.K464T|CUL1_uc003wez.2_Missense_Mutation_p.K354T|CUL1_uc003wfa.2_Missense_Mutation_p.K125T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	464					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTATTTCAGAAGTTCTATGCG	0.478												
SLC4A2	6522	broad.mit.edu	37	7	150761422	150761422	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:150761422C>T	uc003wit.3	+	3	441	c.185C>T	c.(184-186)CCA>CTA	p.P62L	SLC4A2_uc011kve.1_Missense_Mutation_p.P53L|SLC4A2_uc003wiu.3_Missense_Mutation_p.P48L	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	62	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGAGGAGCCAGGCCGCAGC	0.642												
DLGAP2	9228	broad.mit.edu	37	8	1497566	1497566	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:1497566A>C	uc003wpl.2	+	2	804	c.707A>C	c.(706-708)AAC>ACC	p.N236T	DLGAP2_uc003wpm.2_Missense_Mutation_p.N236T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	315					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCGTGCTCAACCGGCACCAC	0.687												
SGK223	157285	broad.mit.edu	37	8	8234739	8234739	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:8234739C>T	uc003wsh.3	-	2	1180	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	394							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGCTGGGGCTCCCCCGTCAGC	0.642												
BLK	640	broad.mit.edu	37	8	11414188	11414188	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:11414188A>G	uc003wty.2	+	9	1375	c.794A>G	c.(793-795)AAG>AGG	p.K265R	BLK_uc003wtz.2_Missense_Mutation_p.K194R	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	265	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AACAACATGAAGGTGGCCATT	0.537												
MTUS1	57509	broad.mit.edu	37	8	17611800	17611800	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:17611800T>A	uc003wxv.2	-	2	1991	c.1517A>T	c.(1516-1518)AAC>ATC	p.N506I	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.N506I|MTUS1_uc010lsz.2_Missense_Mutation_p.N506I	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	506						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		ATTCTTGAAGTTTGGTCTTGG	0.413												
LPL	4023	broad.mit.edu	37	8	19810899	19810899	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:19810899A>C	uc003wzk.3	+	4	878	c.508A>C	c.(508-510)AGT>CGT	p.S170R		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	170					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTGCAGGAAGTCTGACCAA	0.418												
LPL	4023	broad.mit.edu	37	8	19818548	19818548	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:19818548T>C	uc003wzk.3	+	8	1646	c.1276T>C	c.(1276-1278)TTC>CTC	p.F426L		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	426	PLAT.|Heparin-binding (By similarity).				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CAGTCCCGGCTTCGCCATTCA	0.418												
SLC39A14	23516	broad.mit.edu	37	8	22273409	22273409	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:22273409A>G	uc003xbq.3	+	6	1053	c.878A>G	c.(877-879)GAG>GGG	p.E293G	SLC39A14_uc011kzg.1_Missense_Mutation_p.E293G|SLC39A14_uc003xbp.3_Missense_Mutation_p.E293G|SLC39A14_uc011kzh.1_Missense_Mutation_p.E293G	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	293	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGCAGCAGTGAGCTGGACGGC	0.607												
ADAM7	8756	broad.mit.edu	37	8	24350015	24350015	+	Silent	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:24350015A>T	uc003xeb.2	+	15	1673	c.1560A>T	c.(1558-1560)ATA>ATT	p.I520I	ADAM7_uc003xec.2_Silent_p.I292I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	520	Extracellular (Potential).|Cys-rich.				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)		CAGAGGCAATAGAGAGTCATG	0.308												
PPP2R2A	5520	broad.mit.edu	37	8	26221361	26221361	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:26221361A>T	uc003xeu.2	+	8	1229	c.927A>T	c.(925-927)AAA>AAT	p.K309N	PPP2R2A_uc003xek.2_Missense_Mutation_p.K310N|PPP2R2A_uc011laf.1_Missense_Mutation_p.K319N	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	309	WD 5.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGTCAGTCAAAATTTGGGACT	0.348												
UBXN8	7993	broad.mit.edu	37	8	30623750	30623750	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:30623750T>G	uc003xii.2	+	10	670	c.653T>G	c.(652-654)TTT>TGT	p.F218C	UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	218	UBX.				single fertilization						0						TAGGTCTTATTTGACTGGATG	0.428												
TOX	9760	broad.mit.edu	37	8	59750826	59750826	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:59750826T>G	uc003xtw.1	-	5	959	c.738A>C	c.(736-738)AAA>AAC	p.K246N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	246	Nuclear localization signal (Potential).					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAGTTTTTGGTTTTTTCCCCA	0.453												
C8orf45	157777	broad.mit.edu	37	8	67808561	67808561	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:67808561T>G	uc003xwz.3	+	11	1607	c.1436T>G	c.(1435-1437)ATT>AGT	p.I479S	C8orf45_uc011lev.1_Missense_Mutation_p.I479S|C8orf45_uc011lew.1_Missense_Mutation_p.I410S|C8orf45_uc011lex.1_Missense_Mutation_p.I237S|C8orf45_uc003xwy.3_Missense_Mutation_p.I479S	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	479					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AACACTCTAATTGGTCAGATG	0.294												
PREX2	80243	broad.mit.edu	37	8	69069659	69069659	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:69069659A>C	uc003xxv.1	+	35	4361	c.4334A>C	c.(4333-4335)AAC>ACC	p.N1445T		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1445					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AAACAGTACAACCAGAAGCTC	0.333												
TRPA1	8989	broad.mit.edu	37	8	72946061	72946061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:72946061C>T	uc003xza.2	-	23	2861	c.2686G>A	c.(2686-2688)GAT>AAT	p.D896N	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	896	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTGAAGGGATCCTGAAAGCAG	0.373												
LRRCC1	85444	broad.mit.edu	37	8	86041521	86041521	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:86041521A>G	uc003ycw.2	+	10	1687	c.1533A>G	c.(1531-1533)AAA>AAG	p.K511K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Silent_p.K212K|LRRCC1_uc003ycx.2_Silent_p.K418K|LRRCC1_uc003ycy.2_Silent_p.K491K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	511	Potential.				cell division|mitosis	centriole|nucleus					0						TGAAAGCAAAAGATCAACAAG	0.343												
ATP6V0D2	245972	broad.mit.edu	37	8	87125995	87125995	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:87125995A>C	uc003ydp.1	+	2	257	c.188A>C	c.(187-189)AAT>ACT	p.N63T		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	63					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						AATCACACAAATCCTCTTACT	0.368												
CNBD1	168975	broad.mit.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:88365898T>G	uc003ydy.2	+	10	1235	c.1187T>G	c.(1186-1188)CTT>CGT	p.L396R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323												
TMEM67	91147	broad.mit.edu	37	8	94822056	94822056	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:94822056T>A	uc011lgk.1	+	26	2776	c.2705T>A	c.(2704-2706)CTT>CAT	p.L902H	TMEM67_uc010maw.2_Missense_Mutation_p.L608H|TMEM67_uc003yga.3_Missense_Mutation_p.L821H|TMEM67_uc011lgl.1_Missense_Mutation_p.L301H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	902					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)			AAGTTGCTTCTTGAAAGAATT	0.303												
GEM	2669	broad.mit.edu	37	8	95264363	95264363	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:95264363T>C	uc003ygj.2	-	4	746	c.497A>G	c.(496-498)GAG>GGG	p.E166G	GEM_uc003ygi.2_Missense_Mutation_p.E166G	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	166					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGATGCCTTCTCGAAGCTCGC	0.527												
KIAA1429	25962	broad.mit.edu	37	8	95501040	95501040	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:95501040A>G	uc003ygo.1	-	24	5346	c.5333T>C	c.(5332-5334)CTT>CCT	p.L1778P	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1778					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGAAGGTCCAAGTCCCCCACG	0.493												
C8orf47	203111	broad.mit.edu	37	8	99101485	99101485	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:99101485A>T	uc003yih.1	+	2	388	c.240A>T	c.(238-240)CAA>CAT	p.Q80H		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	80											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AACCCCTCCAAGAACAGCCCC	0.522												
RGS22	26166	broad.mit.edu	37	8	101059816	101059816	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101059816T>G	uc003yjb.1	-	11	1893	c.1698A>C	c.(1696-1698)GAA>GAC	p.E566D	RGS22_uc003yja.1_Missense_Mutation_p.E385D|RGS22_uc003yjc.1_Missense_Mutation_p.E554D|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	566					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATAAGCTGAATTCTTCTTTCT	0.383												
SNX31	169166	broad.mit.edu	37	8	101624261	101624261	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101624261T>G	uc003yjr.2	-	7	729	c.578A>C	c.(577-579)GAG>GCG	p.E193A	SNX31_uc011lha.1_5'UTR|SNX31_uc011lhb.1_Missense_Mutation_p.E94A	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	193					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTTTTCCACCTCAGAACTTCC	0.453												
SNX31	169166	broad.mit.edu	37	8	101624268	101624268	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101624268T>C	uc003yjr.2	-	7	722	c.571A>G	c.(571-573)AGT>GGT	p.S191G	SNX31_uc011lha.1_5'UTR|SNX31_uc011lhb.1_Missense_Mutation_p.S92G	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	191					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ACCTCAGAACTTCCAAGACTA	0.448												
ENPP2	5168	broad.mit.edu	37	8	120650688	120650688	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:120650688C>T	uc003yot.1	-	2	199	c.113G>A	c.(112-114)GGA>GAA	p.G38E	ENPP2_uc003yos.1_Missense_Mutation_p.G38E|ENPP2_uc010mdd.1_Missense_Mutation_p.G38E	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	38					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCCTCCCATCCTTCTGCTCT	0.353												
COL14A1	7373	broad.mit.edu	37	8	121238870	121238870	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:121238870A>C	uc003yox.2	+	16	2134	c.1869A>C	c.(1867-1869)GAA>GAC	p.E623D	COL14A1_uc003yoy.2_Missense_Mutation_p.E301D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	623	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTACAGAGGAAGTTCCAGCCC	0.468												
COL14A1	7373	broad.mit.edu	37	8	121259915	121259915	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:121259915C>T	uc003yox.2	+	21	2808	c.2543C>T	c.(2542-2544)ACG>ATG	p.T848M	COL14A1_uc003yoy.2_Missense_Mutation_p.T526M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	848	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGCGCATTACGTGGGACCCC	0.468												
HAS2	3037	broad.mit.edu	37	8	122626360	122626360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:122626360G>A	uc003yph.2	-	4	2186	c.1648C>T	c.(1648-1650)CTT>TTT	p.L550F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	550	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACATCAAGCACCATGTCA	0.443												
ZHX2	22882	broad.mit.edu	37	8	123964340	123964340	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:123964340A>G	uc003ypk.1	+	3	1157	c.590A>G	c.(589-591)AAG>AGG	p.K197R		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	197	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGATGCCAAGAAGGTGCCC	0.582												
TG	7038	broad.mit.edu	37	8	133925381	133925381	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:133925381T>G	uc003ytw.2	+	20	4290	c.4249T>G	c.(4249-4251)TTC>GTC	p.F1417V	TG_uc010mdw.2_Missense_Mutation_p.F176V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCAAGACGTTCCCAGCGGA	0.547												
ZFAT	57623	broad.mit.edu	37	8	135649941	135649941	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:135649941T>G	uc003yup.2	-	3	386	c.211A>C	c.(211-213)AAG>CAG	p.K71Q	ZFAT_uc003yun.2_Missense_Mutation_p.K59Q|ZFAT_uc003yuo.2_Missense_Mutation_p.K59Q|ZFAT_uc010meh.2_Missense_Mutation_p.K59Q|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.K59Q|ZFAT_uc010mej.2_Missense_Mutation_p.K71Q|ZFAT_uc003yur.2_Missense_Mutation_p.K59Q	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTCTTCCTCTTCATGACCAAA	0.532												
COL22A1	169044	broad.mit.edu	37	8	139767741	139767741	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:139767741C>A	uc003yvd.2	-	20	2408	c.1961G>T	c.(1960-1962)GGC>GTC	p.G654V	COL22A1_uc011ljo.1_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	654	Pro-rich.|Gly-rich.				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)			CCCTTTCAAGCCCTCTTGCTG	0.502										HNSCC(7;0.00092)		
KCNK9	51305	broad.mit.edu	37	8	140631195	140631195	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:140631195T>G	uc003yvf.1	-	2	495	c.431A>C	c.(430-432)AAG>ACG	p.K144T	KCNK9_uc003yvg.1_Missense_Mutation_p.K144T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	144	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACAGCACTTCTTAATGCGCTT	0.597												
SCRT1	83482	broad.mit.edu	37	8	145559797	145559797	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:145559797A>C	uc003zbw.1	-	1	147	c.35T>G	c.(34-36)CTT>CGT	p.L12R		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	12						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAACGCGTCAAGTTTGACCTT	0.692												
NFKBIL2	4796	broad.mit.edu	37	8	145665443	145665443	+	Missense_Mutation	SNP	C	C	T	rs146174683	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:145665443C>T	uc011llg.1	-	11	1456	c.1441G>A	c.(1441-1443)GAA>AAA	p.E481K		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	481	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCAGGGCTTCGCTCTCCGCT	0.557												
DMRT2	10655	broad.mit.edu	37	9	1056580	1056580	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:1056580T>C	uc003zha.2	+	4	1193	c.993T>C	c.(991-993)ACT>ACC	p.T331T	DMRT2_uc003zgx.3_Silent_p.T98T|DMRT2_uc010mgz.2_Silent_p.T98T|DMRT2_uc003zgy.3_Silent_p.T175T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.T331T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	331					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TGGCCACAACTTATAGACAGT	0.453												
PTPRD	5789	broad.mit.edu	37	9	8465495	8465495	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:8465495C>T	uc003zkk.2	-	31	4396	c.3685G>A	c.(3685-3687)GTG>ATG	p.V1229M	PTPRD_uc003zkp.2_Missense_Mutation_p.V818M|PTPRD_uc003zkq.2_Missense_Mutation_p.V818M|PTPRD_uc003zkr.2_Missense_Mutation_p.V813M|PTPRD_uc003zks.2_Missense_Mutation_p.V808M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1220M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1216M|PTPRD_uc003zkn.2_Missense_Mutation_p.V818M|PTPRD_uc003zko.2_Missense_Mutation_p.V815M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1229	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)		ACTGCTAACACAAAGAAGACA	0.403										TSP Lung(15;0.13)		
PTPRD	5789	broad.mit.edu	37	9	8504266	8504266	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:8504266T>C	uc003zkk.2	-	22	2528	c.1817A>G	c.(1816-1818)CAG>CGG	p.Q606R	PTPRD_uc003zkp.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkq.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkr.2_Missense_Mutation_p.Q600R|PTPRD_uc003zks.2_Missense_Mutation_p.Q596R|PTPRD_uc003zkl.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkm.2_Missense_Mutation_p.Q593R|PTPRD_uc003zkn.2_Missense_Mutation_p.Q606R|PTPRD_uc003zko.2_Missense_Mutation_p.Q603R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	606	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)		CCTACTTGACTGCATGGTTCT	0.458										TSP Lung(15;0.13)		
HAUS6	54801	broad.mit.edu	37	9	19093208	19093208	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:19093208T>G	uc003znk.2	-	4	650	c.397A>C	c.(397-399)AGA>CGA	p.R133R	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	133					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						GCAACAAATCTTGCAAAATGA	0.284												
IFNA5	3442	broad.mit.edu	37	9	21304715	21304715	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:21304715A>G	uc011lnh.1	-	1	541	c.541T>C	c.(541-543)TTG>CTG	p.L181L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	181					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTTCTTGCAAGTTTGCTGAT	0.403												
TAF1L	138474	broad.mit.edu	37	9	32634227	32634227	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:32634227T>G	uc003zrg.1	-	1	1441	c.1351A>C	c.(1351-1353)AGC>CGC	p.S451R	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	451					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)		CCTGCCAGGCTTGCACCCTGA	0.468												
AQP7	364	broad.mit.edu	37	9	33385038	33385038	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:33385038G>C	uc003zst.2	-	8	1166	c.994C>G	c.(994-996)CCC>GCC	p.P332A	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_3'UTR	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	332	Cytoplasmic (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCATGTAAGGGTGGGGCAGGG	0.532												
DNAI1	27019	broad.mit.edu	37	9	34500839	34500839	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:34500839T>G	uc003zum.2	+	11	1212	c.1019_splice	c.e11+2	p.W340_splice		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCTCTGCTGGTAAGTATAGGC	0.547									Kartagener_syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UNC13B	10497	broad.mit.edu	37	9	35310525	35310525	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:35310525A>T	uc003zwq.2	+	9	1115	c.823A>T	c.(823-825)AGT>TGT	p.S275C	UNC13B_uc010mkl.1_Missense_Mutation_p.S275C|UNC13B_uc003zwr.2_Missense_Mutation_p.S275C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	275					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTCAGCTAAGTGAACTAGA	0.493												
TLN1	7094	broad.mit.edu	37	9	35716443	35716443	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:35716443A>C	uc003zxt.2	-	20	2923	c.2569T>G	c.(2569-2571)TTA>GTA	p.L857V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	857					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCACTTAAGAGCTTGCGG	0.572												
DCAF10	79269	broad.mit.edu	37	9	37861498	37861498	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:37861498A>C	uc004aao.2	+	7	1747	c.1673A>C	c.(1672-1674)AAG>ACG	p.K558T	DCAF10_uc010mlz.2_Missense_Mutation_p.K385T|DCAF10_uc004aap.2_Missense_Mutation_p.K209T	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	558	WD 7.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						TATCAGCCAAAGTTTTAGGCA	0.368												
VPS13A	23230	broad.mit.edu	37	9	79890551	79890551	+	Silent	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:79890551A>C	uc004akr.2	+	25	2910	c.2650A>C	c.(2650-2652)AGA>CGA	p.R884R	VPS13A_uc004akp.3_Silent_p.R884R|VPS13A_uc004akq.3_Silent_p.R884R|VPS13A_uc004aks.2_Silent_p.R884R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	884					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATTTAAAATAAGATTTGAAGT	0.318												
C9orf153	389766	broad.mit.edu	37	9	88842926	88842926	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:88842926C>T	uc004aoo.2	-	3	167	c.86G>A	c.(85-87)TGT>TAT	p.C29Y	GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Missense_Mutation_p.C29Y	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN	hypothetical protein LOC389766	29											0						ATTCTCAATACATGCATATAA	0.338												
PTPDC1	138639	broad.mit.edu	37	9	96860695	96860695	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:96860695A>C	uc004auf.1	+	7	2025	c.1685A>C	c.(1684-1686)GAA>GCA	p.E562A	PTPDC1_uc004aug.1_Missense_Mutation_p.E562A|PTPDC1_uc004auh.1_Missense_Mutation_p.E614A|PTPDC1_uc010mrj.1_Missense_Mutation_p.E616A|PTPDC1_uc010mri.1_Missense_Mutation_p.E614A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	562							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TTCTTGGTTGAACATGAAACC	0.522												
CDC14B	8555	broad.mit.edu	37	9	99325055	99325055	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:99325055A>C	uc004awj.2	-	4	792	c.340T>G	c.(340-342)TTA>GTA	p.L114V	CDC14B_uc004awk.2_Missense_Mutation_p.L114V|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.L77V	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	114	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTCTTCCTTAACATTGTAATG	0.313												
CTSL2	1515	broad.mit.edu	37	9	99800269	99800269	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:99800269T>C	uc004awt.2	-	2	254	c.57A>G	c.(55-57)CCA>CCG	p.P19P	CTSL2_uc010msi.2_Silent_p.P19P|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	19						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				GGTCAAATTTTGGAACAGCGG	0.428												
GRIN3A	116443	broad.mit.edu	37	9	104433060	104433060	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:104433060T>G	uc004bbp.1	-	3	2235	c.1634A>C	c.(1633-1635)GAC>GCC	p.D545A	GRIN3A_uc004bbq.1_Missense_Mutation_p.D545A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	545	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCATGGGGTCTAGACAGAG	0.463												
KIAA0368	23392	broad.mit.edu	37	9	114124385	114124385	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:114124385A>G	uc004bfe.1	-	51	5979	c.5979T>C	c.(5977-5979)ACT>ACC	p.T1993T		NM_001080398	NP_001073867			KIAA0368 protein												0						CTGGCTCCATAGTAGCTAAAG	0.353												
OR1N1	138883	broad.mit.edu	37	9	125289162	125289162	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125289162T>G	uc004bmn.1	-	1	411	c.411A>C	c.(409-411)CAA>CAC	p.Q137H		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						GGGCACAGACTTGGGGCCTCA	0.552												
OR1L1	26737	broad.mit.edu	37	9	125423888	125423888	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125423888T>A	uc011lza.1	+	1	44	c.44T>A	c.(43-45)TTT>TAT	p.F15Y		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						GTTTTAAATTTTTTCTTTGCT	0.284												
OR1L4	254973	broad.mit.edu	37	9	125486878	125486878	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125486878A>T	uc004bmu.1	+	1	610	c.610A>T	c.(610-612)ACC>TCC	p.T204S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATGACTGAGACCTTAGCTGT	0.517												
HSPA5	3309	broad.mit.edu	37	9	128003292	128003292	+	Silent	SNP	G	G	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:128003292G>T	uc004bpn.2	-	1	370	c.114C>A	c.(112-114)ACC>ACA	p.T38T		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	38					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	ACCAGGAGTAGGTGGTCCCCA	0.677										Prostate(1;0.17)		
NUP188	23511	broad.mit.edu	37	9	131757652	131757652	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:131757652A>C	uc004bws.1	+	30	3232	c.3210A>C	c.(3208-3210)AAA>AAC	p.K1070N	NUP188_uc004bwu.2_Missense_Mutation_p.K413N	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1070					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCATCGAGAAACGCTTTGCCT	0.453												
TTF1	7270	broad.mit.edu	37	9	135277028	135277028	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:135277028A>C	uc004cbl.2	-	2	1233	c.1181T>G	c.(1180-1182)CTT>CGT	p.L394R	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	394					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GACAGACGTAAGCTTCCTTTT	0.473												
DBH	1621	broad.mit.edu	37	9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:136508598G>A	uc004cel.2	+	4	817	c.808G>A	c.(808-810)GCC>ACC	p.A270T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	270	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662												
COBRA1	25920	broad.mit.edu	37	9	140150786	140150786	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:140150786A>G	uc004cmm.3	+	3	475	c.272A>G	c.(271-273)AAG>AGG	p.K91R		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	91					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		TCCAGGTACAAGAAGCTGGAA	0.552												
PNPLA7	375775	broad.mit.edu	37	9	140441764	140441764	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:140441764A>C	uc004cnf.2	-	2	452	c.115T>G	c.(115-117)TTT>GTT	p.F39V	PNPLA7_uc010ncj.1_Missense_Mutation_p.F64V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	39					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TACTCACGAAATTGTCTAAGC	0.587												
MXRA5	25878	broad.mit.edu	37	X	3240744	3240744	+	Silent	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:3240744T>C	uc004crg.3	-	5	3139	c.2982A>G	c.(2980-2982)AAA>AAG	p.K994K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	994						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTGTCTTCTTTCATCTTAT	0.468												
CLCN4	1183	broad.mit.edu	37	X	10176510	10176510	+	Silent	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:10176510T>G	uc004csy.3	+	9	1699	c.1269T>G	c.(1267-1269)ACT>ACG	p.T423T	CLCN4_uc011mid.1_Silent_p.T329T	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	423						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAACATGACTCGGCCTGTGG	0.557												
DMD	1756	broad.mit.edu	37	X	32834689	32834689	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:32834689G>C	uc004dda.1	-	6	670	c.426C>G	c.(424-426)AGC>AGG	p.S142R	DMD_uc004dcz.2_Missense_Mutation_p.S19R|DMD_uc004dcy.1_Missense_Mutation_p.S138R|DMD_uc004ddb.1_Missense_Mutation_p.S134R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S134R|DMD_uc010ngp.1_Missense_Mutation_p.S19R|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	142	CH 2.|Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCGGACCCAGCTCAGGAGAA	0.388												
FAM47A	158724	broad.mit.edu	37	X	34148076	34148076	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:34148076G>A	uc004ddg.2	-	1	2353	c.2320C>T	c.(2320-2322)CGT>TGT	p.R774C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	774										ovary(4)|central_nervous_system(1)	5						ATCATTGCACGTTGAATAGGA	0.398												
XK	7504	broad.mit.edu	37	X	37586943	37586943	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:37586943A>C	uc004ddq.2	+	3	645	c.563A>C	c.(562-564)AAC>ACC	p.N188T		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	188	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTGCGCTGCAACATCCTAGCC	0.473												
CYBB	1536	broad.mit.edu	37	X	37660536	37660536	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:37660536T>G	uc004ddr.2	+	8	893	c.832T>G	c.(832-834)TTT>GTT	p.F278V	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.F246V|CYBB_uc011mkg.1_Missense_Mutation_p.F11V	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	278	Helical; (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GGGTCCCATGTTTCTGTATCT	0.393												
GPR82	27197	broad.mit.edu	37	X	41587063	41587063	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:41587063T>C	uc004dfs.1	+	3	1024	c.784T>C	c.(784-786)TTC>CTC	p.F262L	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.F262L|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	262	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						AATAGTTTGCTTCCTTCCTTA	0.308												
RP2	6102	broad.mit.edu	37	X	46713334	46713334	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:46713334G>A	uc004dgw.3	+	2	715	c.526G>A	c.(526-528)GAC>AAC	p.D176N		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	176	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0						TAACATTCATGACTTTACACC	0.408												
SSX7	280658	broad.mit.edu	37	X	52677333	52677333	+	Silent	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:52677333A>G	uc004dqx.1	-	6	603	c.444T>C	c.(442-444)TCT>TCC	p.S148S		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					TAATCTTCTCAGAGGTACTTG	0.512												
RIBC1	158787	broad.mit.edu	37	X	53455348	53455348	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:53455348A>C	uc004dsk.2	+	5	470	c.317A>C	c.(316-318)AAG>ACG	p.K106T	RIBC1_uc004dsj.1_Missense_Mutation_p.K106T|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	106	Potential.										0						CAGCAGCTCAAGAACGGGCGT	0.507												
FGF16	8823	broad.mit.edu	37	X	76711973	76711973	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:76711973A>C	uc011mqp.1	+	2	584	c.311A>C	c.(310-312)AAG>ACG	p.K104T		NM_003868	NP_003859	O43320	FGF16_HUMAN	fibroblast growth factor 16	195					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			lung(1)	1						GATCCTTCTAAGTTGCCCTCC	0.522												
LPAR4	2846	broad.mit.edu	37	X	78011340	78011340	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:78011340A>C	uc010nme.2	+	2	1379	c.974A>C	c.(973-975)AAT>ACT	p.N325T		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	325	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TTCTACATCAATGCCCACATC	0.428												
CYLC1	1538	broad.mit.edu	37	X	83128425	83128425	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:83128425A>G	uc004eei.1	+	4	730	c.709A>G	c.(709-711)ATT>GTT	p.I237V	CYLC1_uc004eeh.1_Missense_Mutation_p.I236V	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	237					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CATATCAGAGATTTGCTCAGA	0.333												
H2BFWT	158983	broad.mit.edu	37	X	103268024	103268024	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:103268024C>T	uc004elr.2	-	1	233	c.209G>A	c.(208-210)CGC>CAC	p.R70H		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	70					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						GTGGCACCTGCGGGGCCCATG	0.647												
CHRDL1	91851	broad.mit.edu	37	X	109937440	109937440	+	Silent	SNP	T	T	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:109937440T>A	uc004eou.3	-	8	1078	c.729A>T	c.(727-729)TCA>TCT	p.S243S	CHRDL1_uc004eov.2_Silent_p.S237S|CHRDL1_uc004eow.2_Silent_p.S242S|CHRDL1_uc010nps.2_Silent_p.S242S|CHRDL1_uc004eot.2_Silent_p.S163S|CHRDL1_uc011mss.1_Silent_p.S157S	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	236					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CAATGGTTCCTGATGCTTGCT	0.512												
GRIA3	2892	broad.mit.edu	37	X	122387364	122387364	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:122387364A>C	uc004etq.3	+	4	772	c.479A>C	c.(478-480)AAG>ACG	p.K160T	GRIA3_uc004etr.3_Missense_Mutation_p.K160T|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.K144T	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	160	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	AAGTGGGAGAAGTTTGTGTAC	0.478												
THOC2	57187	broad.mit.edu	37	X	122801084	122801084	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:122801084T>C	uc004etu.2	-	11	1095	c.1063A>G	c.(1063-1065)ATT>GTT	p.I355V	THOC2_uc011muh.1_Missense_Mutation_p.I276V|THOC2_uc011mui.1_Missense_Mutation_p.I240V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	355					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CAATCACCAATCTTTAATAAG	0.383												
ODZ1	10178	broad.mit.edu	37	X	123654414	123654414	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:123654414T>G	uc004euj.2	-	18	3318	c.3254A>C	c.(3253-3255)AAG>ACG	p.K1085T	ODZ1_uc011muj.1_Missense_Mutation_p.K1084T|ODZ1_uc010nqy.2_Missense_Mutation_p.K1085T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1085	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						GATGTCGGTCTTGTTCCAAGC	0.443												
UTP14A	10813	broad.mit.edu	37	X	129055486	129055486	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:129055486T>G	uc004euz.2	+	11	1299	c.1271T>G	c.(1270-1272)TTT>TGT	p.F424C	UTP14A_uc011mup.1_Missense_Mutation_p.F372C|UTP14A_uc011muq.1_Missense_Mutation_p.F370C|UTP14A_uc004eva.1_Missense_Mutation_p.F130C	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	424					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TTGAGAGAATTTGAGGAAAGG	0.473												
MBNL3	55796	broad.mit.edu	37	X	131540287	131540287	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:131540287A>G	uc004ewv.3	-	2	390	c.311T>C	c.(310-312)CTT>CCT	p.L104P	uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.L8P|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ews.2_Missense_Mutation_p.L8P|MBNL3_uc004ewt.2_Missense_Mutation_p.L54P|MBNL3_uc011muz.1_Missense_Mutation_p.L8P|MBNL3_uc004ewu.3_Missense_Mutation_p.L104P|MBNL3_uc004ewx.1_Missense_Mutation_p.L54P	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	104					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TTGGAGCATAAGCTGCATCTG	0.468												
GPC3	2719	broad.mit.edu	37	X	132888059	132888059	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:132888059A>T	uc004exe.1	-	3	672	c.482T>A	c.(481-483)ATC>AAC	p.I161N	GPC3_uc004exd.1_Missense_Mutation_p.I33N|GPC3_uc010nrn.1_Missense_Mutation_p.I161N|GPC3_uc011mvh.1_Missense_Mutation_p.I145N|GPC3_uc010nro.1_Missense_Mutation_p.I107N|GPC3_uc010nrp.1_Missense_Mutation_p.I33N	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	161						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					ATCTACATTGATGTCAGAACC	0.448			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome			
PLAC1	10761	broad.mit.edu	37	X	133700438	133700438	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:133700438A>C	uc004exo.1	-	3	561	c.275T>G	c.(274-276)GTT>GGT	p.V92G	PLAC1_uc004exp.1_Missense_Mutation_p.V92G	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1 precursor	92					placenta development	extracellular region				pancreas(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCTGTAGATAACCATGTCCTG	0.532												
GPR101	83550	broad.mit.edu	37	X	136113511	136113511	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:136113511A>C	uc011mwh.1	-	1	323	c.323T>G	c.(322-324)GTT>GGT	p.V108G		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GGTGAGGCTAACCAGGGCCGT	0.617												
SLITRK2	84631	broad.mit.edu	37	X	144904311	144904311	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:144904311A>G	uc004fcd.2	+	5	1358	c.368A>G	c.(367-369)GAG>GGG	p.E123G	SLITRK2_uc010nsp.2_Missense_Mutation_p.E123G|SLITRK2_uc010nso.2_Missense_Mutation_p.E123G|SLITRK2_uc011mwq.1_Missense_Mutation_p.E123G|SLITRK2_uc011mwr.1_Missense_Mutation_p.E123G|SLITRK2_uc011mws.1_Missense_Mutation_p.E123G|SLITRK2_uc004fcg.2_Missense_Mutation_p.E123G|SLITRK2_uc011mwt.1_Missense_Mutation_p.E123G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	123	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AACAAGCTTGAGATATTGAGG	0.507												
DUSP9	1852	broad.mit.edu	37	X	152915040	152915040	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	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												
F8	2157	broad.mit.edu	37	X	154157811	154157811	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:154157811A>C	uc004fmt.2	-	14	4425	c.4254T>G	c.(4252-4254)ATT>ATG	p.I1418M		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1418	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATATAGGTCTAATAGATGGAA	0.423												
SCTR	6344	broad.mit.edu	37	2	120204334	120204334	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120204334delC	uc002tma.2	-	11	1366	c.1140_splice	c.e11+1	p.Q380_splice	SCTR_uc002tlz.2_Splice_Site_p.Q202_splice	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor						digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	TGGAAACTTACCTGGAATGAG	0.532												
FANCB	2187	broad.mit.edu	37	X	14868798	14868799	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:14868798_14868799insA	uc004cwg.1	-	7	1595	c.1327_splice	c.e7-1	p.K443_splice	FANCB_uc004cwh.1_Splice_Site_p.K443_splice	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B						DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					ACATTCCTTCTAAAAAAAAAAG	0.312								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
PIGR	5284	broad.mit.edu	37	1	207107909	207107910	+	Frame_Shift_Ins	INS	-	-	A	rs149926452	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207107909_207107910insA	uc001hez.2	-	6	1744_1745	c.1560_1561insT	c.(1558-1563)TGTGACfs	p.C520fs	PIGR_uc009xbz.2_Frame_Shift_Ins_p.C520fs	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	520_521	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGTTCTCGTCACAGTTCACGA	0.579												
NAV2	89797	broad.mit.edu	37	11	20122681	20122681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:20122681delT	uc001mpr.3	+	32	6750	c.6389delT	c.(6388-6390)GTTfs	p.V2130fs	NAV2_uc001mpp.2_Frame_Shift_Del_p.V2063fs|NAV2_uc009yhx.2_Frame_Shift_Del_p.V1191fs|NAV2_uc009yhz.2_Frame_Shift_Del_p.V772fs|NAV2_uc001mpu.2_Frame_Shift_Del_p.V565fs	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2186						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ACAGACGGGGTTATCGCCACC	0.512												
ZDHHC5	25921	broad.mit.edu	37	11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:57466855_57466857delAGA	uc001nkx.1	+	11	3203_3205	c.1947_1949delAGA	c.(1945-1950)ACAGAA>ACA	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	651						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						TCTCTGAGACAGAAGAAGTGGCC	0.512												
SCTR	6344	broad.mit.edu	37	2	120204334	120204334	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120204334delC	uc002tma.2	-	11	1366	c.1140_splice	c.e11+1	p.Q380_splice	SCTR_uc002tlz.2_Splice_Site_p.Q202_splice	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor						digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	TGGAAACTTACCTGGAATGAG	0.532												
KIAA1009	22832	broad.mit.edu	37	6	84879083	84879084	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:84879083_84879084insT	uc010kbp.2	-	18	2445_2446	c.2348_2349insA	c.(2347-2349)AATfs	p.N783fs	KIAA1009_uc003pkj.3_Frame_Shift_Ins_p.N707fs|KIAA1009_uc003pki.3_Frame_Shift_Ins_p.N169fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	783	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GATCTGTAAAATTCTGATTTCT	0.317												
FANCB	2187	broad.mit.edu	37	X	14868798	14868799	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:14868798_14868799insA	uc004cwg.1	-	7	1595	c.1327_splice	c.e7-1	p.K443_splice	FANCB_uc004cwh.1_Splice_Site_p.K443_splice	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B						DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					ACATTCCTTCTAAAAAAAAAAG	0.312								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
PIGR	5284	broad.mit.edu	37	1	207107910	207107911	+	Frame_Shift_Ins	INS	-	-	A	rs149926452	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207107909_207107910C>CA	uc001hez.3	-	5	1744_1745	c.1560_1561G>TG	c.(1558-1563)tgtgacfs	p.C520fs	PIGR_uc009xbz.3_Frame_Shift_Ins_p.C520fs	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	520	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGTTCTCGTCACAGTTCACGA	0.579												
TSPYL6	388951	broad.mit.edu	37	2	54483114	54483114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54483113_54483113AC>A	uc002rxr.2	-	0	297	c.176_176GT>T	c.(175-177)gtcfs	p.V59fs	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	59					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGGGGCGCGACCCCCTCCTC	0.597												
ARID5A	10865	broad.mit.edu	37	2	97215078	97215095	+	In_Frame_Del	DEL	GGAGCGGGAGGAGGAGCA	GGAGCGGGAGGAGGAGCA	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:97215077_97215094GGGAGCGGGAGGAGGAGCA>G	uc002swe.3	+	2	240_257	c.140_157GGGAGCGGGAGGAGGAGCA>G	c.(139-159)ggggagcgggaggaggagcag>gGag	p.EREEEQ54del	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	54					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						gaggcaggcggggagcgggaggaggagcaggagcggga	0.647												
SGOL1	151648	broad.mit.edu	37	3	20212717	20212718	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:20212716_20212717G>GT	uc003cbu.3	-	6	1445_1446	c.1290_1291C>AC	c.(1288-1293)ccacctfs	p.P430fs	SGOL1_uc003cbw.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003cbv.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cbt.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Frame_Shift_Ins_p.P430fs|SGOL1_uc003cbr.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003ccc.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc021wtx.1_Frame_Shift_Ins_p.P57fs|SGOL1_uc021wty.1_Frame_Shift_Ins_p.P40fs|SGOL1_uc003ccb.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cca.3_Frame_Shift_Ins_p.P430fs|SGOL1_uc003cby.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003cbx.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.P430fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	430					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGAGTTTCAGGTGGTGTAGCTA	0.327												
COLEC10	10584	broad.mit.edu	37	8	120079640	120079643	+	Frame_Shift_Del	DEL	CACA	CACA	-			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:120079639_120079642CCACA>C	uc003yoo.3	+	0	216_219	c.119_122CCACA>C	c.(118-123)gccacafs	p.A40fs		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	40						collagen|cytoplasm	mannose binding	p.C39Y(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAAGTCTGTGCCACACACACAATT	0.412												
HECTD2	143279	broad.mit.edu	37	10	93247481	93247482	+	Frame_Shift_Ins	INS	-	-	A	rs57105282		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:93247480_93247481C>CA	uc010qnm.1	+	11	1248_1249	c.1148_1149C>CA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Ins_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Ins_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCTGTAGCTGCAAAAAAAATCA	0.317												
AOC3	8639	broad.mit.edu	37	17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:41003596_41003597T>TG	uc002ibv.3	+	0	396_397	c.236_237T>TG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653