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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
PANK4	55229	broad.mit.edu	37	1	2440291	2440291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:2440291C>T	uc001ajm.1	-	19	2326	c.2317G>A	c.(2317-2319)GAG>AAG	p.E773K	PANK4_uc010nza.1_Missense_Mutation_p.E734K	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	773					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGCCTCACTCGGCTGGGACC	0.567		NaN											0	0	0	0.00632	0	23	18				
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:24419480C>T	uc001bin.3	-	10	1210	c.1047G>A	c.(1045-1047)TCG>TCA	p.S349S	MYOM3_uc001bim.3_Silent_p.S6S|MYOM3_uc001bio.2_Silent_p.S349S|MYOM3_uc001bip.1_Silent_p.S6S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	349	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.458		NaN											0	0	0	0.01892	0	25	22				
GPN2	54707	broad.mit.edu	37	1	27210712	27210712	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:27210712C>G	uc001bnd.1	-	4	1081	c.799G>C	c.(799-801)GAG>CAG	p.E267Q		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	267							GTP binding				0						CTTCGCTGCTCTTGGGCTCTG	0.537		NaN											0	0	0	0.00632	0	29	34				
EBNA1BP2	10969	broad.mit.edu	37	1	43630462	43630462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:43630462C>T	uc001cin.2	-	8	919	c.722G>A	c.(721-723)CGA>CAA	p.R241Q	EBNA1BP2_uc001cio.2_Missense_Mutation_p.R296Q|EBNA1BP2_uc001cim.2_Missense_Mutation_p.R136Q|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.R296Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	241					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTATACCGTCGTTTAGCACT	0.468		NaN											0	0	0	0.00499	0	17	100				
NBPF9	400818	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:144220807A>C	uc010oxr.1	+	19	2184	c.2180A>C	c.(2179-2181)GAT>GCT	p.D727A	NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	700	NBPF 5.					cytoplasm					0						GAGCTGCTGGATGAGAAAGAG	0.483		NaN											0	0	0	0.021523	0	21	120				
C1orf54	79630	broad.mit.edu	37	1	150248969	150248969	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:150248969A>G	uc001eud.2	+	4	267	c.229A>G	c.(229-231)ACC>GCC	p.T77A	C1orf54_uc001euc.2_Missense_Mutation_p.T77A|C1orf54_uc001eue.2_Missense_Mutation_p.T77A|C1orf54_uc001euf.2_Missense_Mutation_p.T77A|C1orf54_uc001eug.2_Missense_Mutation_p.T77A	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	77						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATAGAGACTACCATTAGTCT	0.453		NaN											0	0	0	0.007835	0	39	57				
RORC	6097	broad.mit.edu	37	1	151785462	151785462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:151785462C>T	uc001ezh.2	-	9	1354	c.1246G>A	c.(1246-1248)GAG>AAG	p.E416K	RORC_uc001ezg.2_Missense_Mutation_p.E395K|RORC_uc010pdo.1_Missense_Mutation_p.E470K|RORC_uc010pdp.1_Missense_Mutation_p.E404K	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	416	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCAATCTCATCCTCGGAA	0.517		NaN											0	0	0	0.00632	0	28	50				
RUSC1	23623	broad.mit.edu	37	1	155292628	155292628	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:155292628C>T	uc001fkj.2	+	2	1293	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S355L|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	355						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCCCCCCCTCGGGGTCGCCG	0.701		NaN											0	0	0	0.01441	0	52	47				
TMCC2	9911	broad.mit.edu	37	1	205240950	205240950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:205240950G>T	uc001hbz.1	+	6	2272	c.1828G>T	c.(1828-1830)GAG>TAG	p.E610*	TMCC2_uc010prf.1_Nonsense_Mutation_p.E532*|TMCC2_uc001hca.2_Nonsense_Mutation_p.E385*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.E370*|TMCC2_uc001hcc.1_Nonsense_Mutation_p.E231*|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	610	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGCCGTGGAGTCCTGCCT	0.647		NaN											1	0	7.81431e-29	0.01441	8.2185e-29	80	94				
LYST	1130	broad.mit.edu	37	1	235966211	235966211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:235966211C>T	uc001hxj.2	-	8	3884	c.3709G>A	c.(3709-3711)GAT>AAT	p.D1237N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D1237N	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1237					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTACCATCATCCTGGGTT	0.313		NaN							Chediak-Higashi_syndrome				0	0	0	0.014758	0	4	35				
AHCTF1	25909	broad.mit.edu	37	1	247057966	247057966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:247057966C>G	uc001ibu.1	-	13	1806	c.1799G>C	c.(1798-1800)AGA>ACA	p.R600T	AHCTF1_uc001ibv.1_Missense_Mutation_p.R609T|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	600	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTACATAGTCTGTCAAATTC	0.303		NaN											0	0	0	0.021523	0	21	22				
KIAA1217	56243	broad.mit.edu	37	10	24810779	24810779	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:24810779C>T	uc001iru.3	+	12	2780	c.2377C>T	c.(2377-2379)CTG>TTG	p.L793L	KIAA1217_uc001irs.2_Silent_p.L713L|KIAA1217_uc001irt.3_Silent_p.L758L|KIAA1217_uc010qcy.1_Silent_p.L758L|KIAA1217_uc010qcz.1_Silent_p.L758L|KIAA1217_uc001irv.1_Silent_p.L608L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.L476L|KIAA1217_uc001irz.2_Silent_p.L476L|KIAA1217_uc001irx.2_Silent_p.L476L|KIAA1217_uc001iry.2_Silent_p.L476L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	793					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CGTGCGGTTTCTGAAGGAGGA	0.577		NaN											0	0	0	0.013114	0	39	62				
PTCHD3	374308	broad.mit.edu	37	10	27702774	27702774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:27702774C>T	uc001itu.2	-	1	524	c.406G>A	c.(406-408)GCG>ACG	p.A136T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CAGGGGTGCGCGCCCACCTGC	0.667		NaN											0	0	0	0.01441	0	56	56				
PDZD8	118987	broad.mit.edu	37	10	119043793	119043793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:119043793C>A	uc001lde.1	-	5	2650	c.2451G>T	c.(2449-2451)TTG>TTT	p.L817F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	817					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCTTCAACCAAATGGGGTT	0.368		NaN											1	0	0.00909568	0.009096	0.00919618	4	63				
DMBT1	1755	broad.mit.edu	37	10	124339372	124339372	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:124339372A>T	uc001lgk.1	+	10	1064	c.958A>T	c.(958-960)ACC>TCC	p.T320S	DMBT1_uc001lgl.1_Missense_Mutation_p.T320S|DMBT1_uc001lgm.1_Missense_Mutation_p.T320S|DMBT1_uc009xzz.1_Missense_Mutation_p.T320S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.T172S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	320	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCACCCACAACTG	0.572		NaN											0	0	0	0.027894	0	34	89				
CHRNA10	57053	broad.mit.edu	37	11	3688596	3688596	+	Missense_Mutation	SNP	G	G	A	rs140976405		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:3688596G>A	uc001lyf.2	-	4	833	c.761C>T	c.(760-762)GCG>GTG	p.A254V	CHRNA10_uc010qxt.1_Missense_Mutation_p.A48V|CHRNA10_uc010qxu.1_Missense_Mutation_p.A48V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	254	Helical; (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCGAGCGGCGCAAGCAGCGA	0.697		NaN											0	0	0	0.010818	0	30	30				
MICAL2	9645	broad.mit.edu	37	11	12234924	12234924	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:12234924C>G	uc001mjz.2	+	7	1102	c.814C>G	c.(814-816)CAG>GAG	p.Q272E	MICAL2_uc010rch.1_Missense_Mutation_p.Q272E|MICAL2_uc001mka.2_Missense_Mutation_p.Q272E|MICAL2_uc010rci.1_Missense_Mutation_p.Q272E|MICAL2_uc001mkb.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkc.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkd.2_Missense_Mutation_p.Q101E|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	272						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CATCTTCAATCAGAAATTTTT	0.463		NaN											0	0	0	0.01441	0	76	125				
INTS5	80789	broad.mit.edu	37	11	62415960	62415961	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:62415960_62415961TC>AT	uc001nud.2	-	2	1644_1645	c.1591_1592GA>AT	c.(1591-1593)GAG>ATG	p.E531M	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	531					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CAAACTCAACTCTTCAGGGCTT	0.624		NaN											0	0	0	0.004672	0	112	140				
AMOTL1	154810	broad.mit.edu	37	11	94599320	94599320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:94599320G>A	uc001pfb.2	+	11	2645	c.2475G>A	c.(2473-2475)TGG>TGA	p.W825*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.W775*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	825						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGAAGACCTGGAAGGGGAGCA	0.458		NaN											0	0	0	0.008871	0	20	25				
MMP3	4314	broad.mit.edu	37	11	102709926	102709926	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:102709926C>T	uc001phj.1	-	7	1049	c.984G>A	c.(982-984)TTG>TTA	p.L328L		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	328	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATGAAGAGATCAAATGCAATT	0.358		NaN											0	0	0	0.01441	0	50	70				
ATM	472	broad.mit.edu	37	11	108117799	108117799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:108117799G>A	uc001pkb.1	+	8	1395	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H	ATM_uc009yxr.1_Missense_Mutation_p.R337H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGGATTTCGTAATATTGCC	0.323		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.024334	0	25	32		Valid		
VPS26B	112936	broad.mit.edu	37	11	134114848	134114848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:134114848C>G	uc001qhe.2	+	5	1194	c.738C>G	c.(736-738)ATC>ATG	p.I246M		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	246					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCATCCCGATCCGGCTCTTCC	0.582		NaN									OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009718	0	37	67				
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:1940449C>T	uc001qjt.2	+	4	1222	c.416C>T	c.(415-417)TCG>TTG	p.S139L	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139	Extracellular (Potential).|LRR 3.					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652		NaN											0	0	0	0.01441	0	96	100				
DNM1L	10059	broad.mit.edu	37	12	32873665	32873665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:32873665C>T	uc001rld.2	+	8	969	c.808C>T	c.(808-810)CAA>TAA	p.Q270*	DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Nonsense_Mutation_p.Q270*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.Q270*|DNM1L_uc010skh.1_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.Q323*|DNM1L_uc010ski.1_Nonsense_Mutation_p.Q67*	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	270	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTTTTCTTCAAAAGAAATA	0.348		NaN											0	0	0	0.009535	0	31	53				
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:56478817G>A	uc001sjh.2	+	3	466	c.273G>A	c.(271-273)ATG>ATA	p.M91I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	91	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473		NaN											0	0	0	0.01441	0	57	107		Valid		
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:113385903C>T	uc001tug.2	+	5	1115	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	343	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TGGAAGGGGCCGGTAAGTGAG	0.567		NaN											0	0	0	0.010504	0	18	32				
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:25283562C>T	uc001upp.2	+	18	2741	c.2554C>T	c.(2554-2556)CGC>TGC	p.R852C	ATP12A_uc010aaa.2_Missense_Mutation_p.R858C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	852	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGAAGCCTCGCCACAAGAA	0.557		NaN											0	0	0	0.015359	0	34	37				
BRCA2	675	broad.mit.edu	37	13	32910686	32910686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:32910686G>C	uc001uub.1	+	11	2421	c.2194G>C	c.(2194-2196)GAG>CAG	p.E732Q		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	732	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAAAAGAAGAGGTCTTGGC	0.373		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.027356	0	26	29				
TRPC4	7223	broad.mit.edu	37	13	38211379	38211379	+	Missense_Mutation	SNP	G	G	T	rs146885289		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:38211379G>T	uc001uws.2	-	11	2830	c.2595C>A	c.(2593-2595)TTC>TTA	p.F865L	TRPC4_uc010abv.2_Missense_Mutation_p.F445L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F692L|TRPC4_uc010abx.2_Missense_Mutation_p.F870L|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	865	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.F865F(1)		ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAACAGAGAAGATTTGGT	0.413		NaN											1	0	5.18039e-06	0.00308	5.29615e-06	7	79				
THSD1	55901	broad.mit.edu	37	13	52952331	52952331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952331G>A	uc001vgo.2	-	5	2319	c.1774C>T	c.(1774-1776)CCG>TCG	p.P592S	THSD1_uc001vgp.2_Missense_Mutation_p.P539S|THSD1_uc010tgz.1_Missense_Mutation_p.P213S|THSD1_uc010aea.2_Missense_Mutation_p.P53S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	592	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCTGCTCCGGAAATGGGGAT	0.582		NaN											0	0	0	0.01441	0	68	83				
THSD1	55901	broad.mit.edu	37	13	52952573	52952573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952573G>C	uc001vgo.2	-	5	2077	c.1532C>G	c.(1531-1533)TCT>TGT	p.S511C	THSD1_uc001vgp.2_Missense_Mutation_p.S458C|THSD1_uc010tgz.1_Missense_Mutation_p.S132C|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	511	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCGCTGCCAGAGGCATCATC	0.602		NaN											0	0	0	0.01441	0	66	100				
THSD1	55901	broad.mit.edu	37	13	52952895	52952895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952895G>A	uc001vgo.2	-	5	1755	c.1210C>T	c.(1210-1212)CAG>TAG	p.Q404*	THSD1_uc001vgp.2_Nonsense_Mutation_p.Q351*|THSD1_uc010tgz.1_Nonsense_Mutation_p.Q25*|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	404	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCCTGGGGCTGAAGAGGAGAT	0.393		NaN											0	0	0	0.027356	0	26	46				
DACH1	1602	broad.mit.edu	37	13	72147065	72147065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:72147065C>T	uc010thn.1	-	5	1629	c.1206G>A	c.(1204-1206)ATG>ATA	p.M402I	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	454					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATCTGGCTCATTGCCATGG	0.453		NaN											0	0	0	0.010818	0	33	47				
CHD8	57680	broad.mit.edu	37	14	21894345	21894345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:21894345G>C	uc001was.1	-	5	915	c.821C>G	c.(820-822)TCA>TGA	p.S274*	CHD8_uc001war.1_Nonsense_Mutation_p.S170*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	553					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCACATCTGAATTATCAGA	0.373		NaN											0	0	0	0.024245	0	15	16				
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:24506961C>G	uc010alc.2	+	2	138	c.138C>G	c.(136-138)TTC>TTG	p.F46L	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	46	NADP (By similarity).						binding|oxidoreductase activity				0						GGATCGGCTTCGCCGTCGCCC	0.458		NaN											0	0	0	0.008291	0	9	64				
C14orf182	283551	broad.mit.edu	37	14	50472404	50472404	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:50472404C>T	uc001wxi.1	-	1	1835	c.114G>A	c.(112-114)CCG>CCA	p.P38P		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	38											0						AAAGACCTCTCGGTTCGTGAA	0.537		NaN											0	0	0	0.01441	0	140	180				
KIAA0284	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:105361169A>C	uc010axb.2	+	19	4763	c.4539A>C	c.(4537-4539)TCA>TCC	p.S1513S	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.S1443S|KIAA0284_uc001yps.2_Silent_p.S1454S|KIAA0284_uc001ypt.2_Silent_p.S181S	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1548						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCACCCTCACCCGCCTCAG	0.711		NaN											0	0	0	0.021523	0	7	24				
DUOX2	50506	broad.mit.edu	37	15	45399061	45399061	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:45399061G>A	uc010bea.2	-	15	2003	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I	DUOX2_uc001zun.2_Silent_p.I600I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	600	Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAATGATGGTGATGGCAAAAC	0.597		NaN											0	0	0	0.001984	0	7	11				
RPP25	54913	broad.mit.edu	37	15	75248616	75248616	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:75248616G>C	uc002azj.1	-	1	1160	c.309C>G	c.(307-309)CGC>CGG	p.R103R		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	ribonuclease P 25kDa subunit	103					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding				0						GCCACACCTCGCGTACGCTCC	0.716		NaN											0	0	0	0.00308	0	7	18				
RHOT2	89941	broad.mit.edu	37	16	723543	723543	+	Silent	SNP	C	C	T	rs140204401		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:723543C>T	uc002cip.2	+	19	1861	c.1794C>T	c.(1792-1794)GTC>GTT	p.V598V	RHOT2_uc002ciq.2_Silent_p.V491V|RHOT2_uc010bqy.2_Silent_p.V377V|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	598	Miro 2.|Helical; Anchor for type IV membrane protein; (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				TGGGGGTTGTCGGGGCCGCCG	0.627		NaN											0	0	0	0.01441	0	127	144				
MRPS34	65993	broad.mit.edu	37	16	1822511	1822511	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:1822511T>C	uc002cmo.2	-	3	388	c.368A>G	c.(367-369)AAG>AGG	p.K123R	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'UTR|MRPS34_uc002cmp.1_Missense_Mutation_p.K130R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	123						mitochondrion|ribosome	protein binding			skin(2)	2						GCTCTCAGTCTTCCCTGATGA	0.627		NaN											0	0	0	0.020292	0	12	321				
RPS2	6187	broad.mit.edu	37	16	2012571	2012571	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:2012571C>T	uc002cnn.2	-	5	824	c.636G>A	c.(634-636)AAG>AAA	p.K212K	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.K154K|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.K212K|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	212					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome				0						TCATGAGCAGCTTCTTAGGCA	0.632		NaN											0	0	0	0.01441	0	44	53				
PAQR4	124222	broad.mit.edu	37	16	3021898	3021898	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:3021898C>T	uc002csj.3	+	3	1105	c.771C>T	c.(769-771)GGC>GGT	p.G257G	PAQR4_uc002csk.3_Silent_p.G218G|PAQR4_uc002csl.3_Silent_p.G183G|PAQR4_uc010uwm.1_Silent_p.G188G	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257	Helical; (Potential).					integral to membrane	receptor activity				0						TGCACGCCGGCGTCGTGCCCG	0.672		NaN											0	0	0	0.01441	0	42	64				
TEKT5	146279	broad.mit.edu	37	16	10721530	10721530	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:10721530G>C	uc002czz.1	-	7	1440	c.1368C>G	c.(1366-1368)ATC>ATG	p.I456M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	456					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGTTGGCCTTGATGGCGAGCT	0.647		NaN											0	0	0	0.01441	0	73	83				
HS3ST4	9951	broad.mit.edu	37	16	26146939	26146939	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:26146939G>A	uc002dof.2	+	2	1133	c.741G>A	c.(739-741)GTG>GTA	p.V247V		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	247	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		CTAGAAATGTGATGCCCAAGA	0.423		NaN											0	0	0	0.01892	0	25	30				
PRSS54	221191	broad.mit.edu	37	16	58320015	58320015	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320015G>A	uc002enf.2	-	5	743	c.348C>T	c.(346-348)ATC>ATT	p.I116I	PRSS54_uc002eng.2_Silent_p.I116I|PRSS54_uc010vie.1_Silent_p.I17I	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	116	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTCATGGATGATGATGGTAT	0.458		NaN											0	0	0	0.01441	0	72	111				
PRSS54	221191	broad.mit.edu	37	16	58320044	58320044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320044G>A	uc002enf.2	-	5	714	c.319C>T	c.(319-321)CAC>TAC	p.H107Y	PRSS54_uc002eng.2_Missense_Mutation_p.H107Y|PRSS54_uc010vie.1_Missense_Mutation_p.H8Y	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	107	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TACTCTGTGTGAGCAATCTTG	0.453		NaN											0	0	0	0.01441	0	68	96				
CDH1	999	broad.mit.edu	37	16	68847234	68847234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:68847234G>A	uc002ewg.1	+	9	1280	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	386	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)|p.E386*(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCAGGTGCCTGAGAACGAGGC	0.493		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.01441	0	60	67				
KIAA0664	23277	broad.mit.edu	37	17	2605306	2605306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:2605306C>T	uc002fuy.1	-	4	493	c.407G>A	c.(406-408)CGA>CAA	p.R136Q	KIAA0664_uc002fux.1_Missense_Mutation_p.R68Q	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	136							binding			breast(2)	2						GAGCAGGTCTCGGACATGGCG	0.622		NaN											0	0	0	0.01892	0	25	45				
AIPL1	23746	broad.mit.edu	37	17	6337283	6337283	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:6337283A>G	uc002gcp.2	-	2	327	c.232T>C	c.(232-234)TCC>CCC	p.S78P	AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.S78P|AIPL1_uc010clk.2_Missense_Mutation_p.S56P|AIPL1_uc010cll.2_Missense_Mutation_p.S78P|AIPL1_uc002gcs.2_Missense_Mutation_p.S78P	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	78	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		ACCCGCATGGAGGTAAGCAGG	0.597		NaN											0	0	0	0.020292	0	13	48				
AATF	26574	broad.mit.edu	37	17	35343960	35343960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:35343960C>T	uc002hni.2	+	5	1128	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	293	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				GGTAGGTCTTCAGGAAGAGTT	0.413		NaN											0	0	0	0.021523	0	23	70				
CDC6	990	broad.mit.edu	37	17	38457718	38457718	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:38457718A>G	uc002huj.1	+	11	1663	c.1453_splice	c.e11-2	p.L485_splice		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						GTTTCCTACCAGTTATATGAA	0.453		NaN											0	0	0	0.01441	0	74	113				
RNF213	57674	broad.mit.edu	37	17	78318808	78318808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:78318808C>T	uc002jyh.1	+	4	1115	c.892C>T	c.(892-894)CAG>TAG	p.Q298*		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGAATTATCAGCTCAGAGA	0.498		NaN											0	0	0	0.01441	0	120	141				
PTPN2	5771	broad.mit.edu	37	18	12814236	12814236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:12814236C>T	uc002krp.2	-	7	1018	c.824G>A	c.(823-825)GGA>GAA	p.G275E	PTPN2_uc002krl.2_Missense_Mutation_p.G275E|PTPN2_uc002krn.2_Missense_Mutation_p.G298E|PTPN2_uc002kro.2_Missense_Mutation_p.G275E|PTPN2_uc002krm.2_Missense_Mutation_p.G275E	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	275	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				ACATTTTGCTCCTTCTATTAT	0.323		NaN											0	0	0	0.009096	0	4	51				
INO80C	125476	broad.mit.edu	37	18	33077830	33077830	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:33077830C>T	uc002kyy.3	-	1	126	c.9G>A	c.(7-9)GCG>GCA	p.A3A	INO80C_uc002kyw.1_Silent_p.A3A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A3A	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	3					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						TTGGAATTTGCGCCGCCATCG	0.607		NaN											0	0	0	0.007413	0	15	23				
DOT1L	84444	broad.mit.edu	37	19	2213964	2213964	+	Silent	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2213964C>A	uc002lvb.3	+	18	1812	c.1776C>A	c.(1774-1776)CTC>CTA	p.L592L	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	592						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCGCGCTCCGCGGCCAGA	0.672		NaN											1	0	3.00063e-23	0.01441	3.11997e-23	59	61				
DOT1L	84444	broad.mit.edu	37	19	2222507	2222507	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2222507C>T	uc002lvb.3	+	24	3375	c.3339C>T	c.(3337-3339)GTC>GTT	p.V1113V	DOT1L_uc002lvc.1_Silent_p.V407V|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1113						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCCGTCGCTGGCCTTT	0.687		NaN											0	0	0	0.010771	0	37	40				
TJP3	27134	broad.mit.edu	37	19	3747941	3747941	+	Silent	SNP	C	C	T	rs142779832		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:3747941C>T	uc010xhv.1	+	18	2571	c.2571C>T	c.(2569-2571)GAC>GAT	p.D857D	TJP3_uc010xhs.1_Silent_p.D824D|TJP3_uc010xht.1_Silent_p.D788D|TJP3_uc010xhu.1_Silent_p.D833D|TJP3_uc010xhw.1_Silent_p.D843D	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	838						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACACAGACGGCGAGGGGG	0.697		NaN											0	0	0	0.010818	0	31	60				
HDGFRP2	84717	broad.mit.edu	37	19	4501319	4501319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:4501319G>A	uc002mao.2	+	16	1999	c.1906G>A	c.(1906-1908)GAC>AAC	p.D636N	HDGFRP2_uc002map.2_Missense_Mutation_p.D636N|HDGFRP2_uc010dua.2_Intron|HDGFRP2_uc002maq.1_Missense_Mutation_p.D106N	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	636					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CTCCTCTGAAGACCTGCACGA	0.672		NaN											0	0	0	0.01441	0	50	81				
RFX2	5990	broad.mit.edu	37	19	6007099	6007099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6007099C>T	uc002meb.2	-	12	1595	c.1326G>A	c.(1324-1326)TGG>TGA	p.W442*	RFX2_uc002mec.2_Nonsense_Mutation_p.W417*|RFX2_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGCTCCTCATCCACCTGAGGA	0.657		NaN											0	0	0	0.01441	0	67	98				
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6735965C>G	uc002mfp.2	-	3	291	c.245G>C	c.(244-246)GGG>GCG	p.G82A	GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	82						integral to membrane					0						GAGACTGAACCCCACCTGGTG	0.552		NaN									OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.028581	0	14	47				
MUC16	94025	broad.mit.edu	37	19	9076763	9076763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:9076763C>T	uc002mkp.2	-	3	10887	c.10683G>A	c.(10681-10683)ATG>ATA	p.M3561I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3562	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						CCATGGTACTCATACCCACTT	0.542		NaN									OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	0	0	0	0.024245	0	14	143				
ICAM5	7087	broad.mit.edu	37	19	10403332	10403332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:10403332G>A	uc002mnu.3	+	5	1071	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	ICAM5_uc002mnv.3_Missense_Mutation_p.E211K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	336	Extracellular (Potential).				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAGCGTCTCCGAGGGGCAGAT	0.657		NaN											0	0	0	0.017118	0	36	55				
EPS15L1	58513	broad.mit.edu	37	19	16532171	16532171	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:16532171G>A	uc002ndz.1	-	10	915	c.909C>T	c.(907-909)TTC>TTT	p.F303F	EPS15L1_uc002ndx.2_Silent_p.F303F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F193F|EPS15L1_uc010xpf.1_Silent_p.F206F|EPS15L1_uc002nea.1_Silent_p.F303F|EPS15L1_uc010eah.1_Silent_p.F303F|EPS15L1_uc002neb.1_Silent_p.F149F|EPS15L1_uc002nec.1_Silent_p.F303F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	303	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CCGAGTGCATGAAGATCTCCT	0.577		NaN											0	0	0	0.01441	0	48	43				
FCHO1	23149	broad.mit.edu	37	19	17897393	17897393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:17897393G>A	uc010ebb.2	+	26	2626	c.2437G>A	c.(2437-2439)GAG>AAG	p.E813K	FCHO1_uc002nhg.3_Missense_Mutation_p.E813K|FCHO1_uc002nhh.2_Missense_Mutation_p.E813K|FCHO1_uc010xpw.1_Missense_Mutation_p.E763K|FCHO1_uc002nhi.2_Missense_Mutation_p.E269K|FCHO1_uc002nhj.2_Missense_Mutation_p.E157K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	813										breast(1)	1						GAACCTGGAGGAGAAGCGGCT	0.493		NaN											0	0	0	0.00499	0	17	25				
ZNF155	7711	broad.mit.edu	37	19	44501575	44501575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:44501575G>C	uc002oxy.1	+	5	1771	c.1566G>C	c.(1564-1566)AAG>AAC	p.K522N	ZNF155_uc002oxz.1_Missense_Mutation_p.K522N|ZNF155_uc010xwt.1_Missense_Mutation_p.K533N|uc010ejc.1_RNA	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	522						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GACGCTACAAGAGGCGCTTGA	0.303		NaN											0	0	0	0.023175	0	38	68				
RPL18	6141	broad.mit.edu	37	19	49119427	49119427	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:49119427G>A	uc002pjq.1	-	5	363	c.330C>T	c.(328-330)CGC>CGT	p.R110R	FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.R58R|RPL18_uc010xzs.1_3'UTR	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GGATGCGGCTGCGGGCCCGGC	0.667		NaN											0	0	0	0.01441	0	76	86				
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54403679C>T	uc002qcq.1	+	13	1662	c.1380C>T	c.(1378-1380)TAC>TAT	p.Y460Y	PRKCG_uc010yeg.1_Silent_p.Y460Y|PRKCG_uc010yeh.1_Silent_p.Y347Y	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGGTTCTACGCGGCAGAAA	0.597		NaN											0	0	0	0.00632	0	25	92				
HSPBP1	23640	broad.mit.edu	37	19	55773977	55773977	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:55773977C>G	uc002qjx.2	-	7	1327	c.1217G>C	c.(1216-1218)TGA>TCA	p.*406S	HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360S	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	406					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTGGTTTCACCGATCCAT	0.622		NaN											0	0	0	0.024245	0	14	21				
ZNF667	63934	broad.mit.edu	37	19	56969551	56969551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:56969551C>A	uc002qnd.2	-	4	388	c.226G>T	c.(226-228)GAG>TAG	p.E76*	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Nonsense_Mutation_p.E76*|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACTGGCTCTACCATCCAG	0.368		NaN											1	0	6.49762e-13	0.006122	6.68014e-13	18	40				
ZNF548	147694	broad.mit.edu	37	19	57910375	57910375	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:57910375C>T	uc002qom.2	+	3	970	c.720C>T	c.(718-720)TTC>TTT	p.F240F	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F243F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	240	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCAATTTCATGAAACATC	0.393		NaN											0	0	0	0.014323	0	23	37				
EMILIN1	11117	broad.mit.edu	37	2	27301966	27301966	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27301966C>G	uc002rii.3	+	1	461	c.33C>G	c.(31-33)CTC>CTG	p.L11L	EMILIN1_uc010eyq.1_Silent_p.L11L	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	11					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACCTCTGCTGCCTGC	0.726		NaN											0	0	0	0.010504	0	15	15				
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27302012C>G	uc002rii.3	+	1	507	c.79C>G	c.(79-81)CGA>GGA	p.R27G	EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	27					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716		NaN											0	0	0	0.006122	0	16	14				
REEP1	65055	broad.mit.edu	37	2	86459784	86459784	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:86459784T>A	uc002srh.3	-	6	703	c.559A>T	c.(559-561)ATG>TTG	p.M187L	REEP1_uc010ytg.1_Missense_Mutation_p.M166L|REEP1_uc010yth.1_Missense_Mutation_p.M160L|REEP1_uc010yti.1_Missense_Mutation_p.R108S	NM_022912	NP_075063	Q9H902	REEP1_HUMAN	receptor accessory protein 1 isoform 2	187					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding				0						CTCCTGGACATCTTAGGCTGG	0.647		NaN											0	0	0	0.027356	0	25	31				
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:110015235C>T	uc010ywt.1	+	4	1135	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			ovary(1)	1						CACCAAGAAACGCCACTCCTT	0.597		NaN											0	0	0	0.024245	0	16	40				
CCDC93	54520	broad.mit.edu	37	2	118731529	118731529	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:118731529G>C	uc002tlj.2	-	11	969	c.843C>G	c.(841-843)CTC>CTG	p.L281L	CCDC93_uc010fld.1_Silent_p.L281L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	281	Potential.									large_intestine(1)|ovary(1)	2						CAGCAGAGCAGAGTCCCACAA	0.542		NaN											0	0	0	0.016723	0	11	17				
UBXN4	23190	broad.mit.edu	37	2	136519444	136519444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:136519444C>T	uc002tur.2	+	6	876	c.565C>T	c.(565-567)CAG>TAG	p.Q189*	UBXN4_uc002tus.2_Intron	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	189	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						ATGCTCAGATCAGAGACCTGC	0.388		NaN											0	0	0	0.016522	0	19	26				
FAP	2191	broad.mit.edu	37	2	163029727	163029727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:163029727G>C	uc002ucd.2	-	24	2247	c.2039C>G	c.(2038-2040)TCA>TGA	p.S680*	FAP_uc010fpc.2_Nonsense_Mutation_p.S229*|FAP_uc010zct.1_Nonsense_Mutation_p.S655*|FAP_uc010fpd.2_Nonsense_Mutation_p.S159*	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	680	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						CATCACAGTTGAATTCTGGAA	0.348		NaN											0	0	0	0.019004	0	34	55				
UBR3	130507	broad.mit.edu	37	2	170917627	170917627	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:170917627G>A	uc010zdi.1	+	34	4824	c.4824G>A	c.(4822-4824)CTG>CTA	p.L1608L	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.L429L|UBR3_uc002uft.3_Silent_p.L465L|UBR3_uc010zdj.1_Silent_p.L299L|UBR3_uc002ufu.3_Silent_p.L114L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1608					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AAGTATTACTGAGCTTTGTGA	0.318		NaN											0	0	0	0.004482	0	8	90				
CENPB	1059	broad.mit.edu	37	20	3765860	3765860	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:3765860T>A	uc002wjk.2	-	1	1478	c.1271A>T	c.(1270-1272)GAA>GTA	p.E424V	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	424	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						ctcctcctcttcctctccttc	0.139		NaN											0	0	0	0.00499	0	18	37				
CHD6	84181	broad.mit.edu	37	20	40049283	40049283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:40049283C>G	uc002xka.1	-	31	6170	c.5992G>C	c.(5992-5994)GAA>CAA	p.E1998Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1998					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)				TTCCAAGGTTCTTTTAAAAGC	0.418		NaN											0	0	0	0.01441	0	57	75				
PCIF1	63935	broad.mit.edu	37	20	44569785	44569786	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44569785_44569786CC>GT	uc002xqs.2	+	7	926_927	c.612_613CC>GT	c.(610-615)CTCCGC>CTGTGC	p.R205C		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	205						nucleus				skin(1)	1						TGGAACTGCTCCGCTCTCAGCT	0.614		NaN											0	0	0	0.004672	0	67	97				
CDH22	64405	broad.mit.edu	37	20	44815269	44815269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44815269C>T	uc002xrm.2	-	9	2022	c.1621G>A	c.(1621-1623)GAA>AAA	p.E541K	CDH22_uc010ghk.1_Missense_Mutation_p.E541K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	541	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTGGGAGCTTCAGGCACCAGG	0.592		NaN											0	0	0	0.01441	0	60	67				
C20orf43	51507	broad.mit.edu	37	20	55049783	55049784	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:55049783_55049784GA>AT	uc002xxt.2	+	3	321_322	c.214_215GA>AT	c.(214-216)GAA>ATA	p.E72I	C20orf43_uc010zzf.1_Missense_Mutation_p.E102I|C20orf43_uc002xxu.2_Missense_Mutation_p.E72I|C20orf43_uc002xxv.2_Missense_Mutation_p.E72I	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	72										ovary(1)	1			Colorectal(105;0.202)			CAAATCTGCAGAAAAGGCTCTT	0.381		NaN											0	0	0	0.004672	0	52	93				
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:37833619G>A	uc002yvk.1	-	2	517	c.375C>T	c.(373-375)TTC>TTT	p.F125F	CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	125	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CGGCCAGGATGAAGAGGGTGC	0.647		NaN											0	0	0	0.01441	0	78	146				
HLCS	3141	broad.mit.edu	37	21	38126600	38126600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:38126600C>T	uc010gnb.2	-	11	3329	c.2128G>A	c.(2128-2130)GAC>AAC	p.D710N	HLCS_uc002yvs.2_Missense_Mutation_p.D710N	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	710					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAGTTGCCGTCCGGGTGCACA	0.637		NaN											0	0	0	0.00308	0	8	41				
DNMT3L	29947	broad.mit.edu	37	21	45681066	45681066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:45681066G>C	uc002zeg.1	-	2	561	c.77C>G	c.(76-78)TCA>TGA	p.S26*	DNMT3L_uc002zeh.1_Nonsense_Mutation_p.S26*	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	26					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACGGAGCTTGAGAGCTCACT	0.597		NaN											0	0	0	0.01441	0	108	148				
MYH9	4627	broad.mit.edu	37	22	36708249	36708249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:36708249G>C	uc003apg.2	-	14	1804	c.1573C>G	c.(1573-1575)CTG>GTG	p.L525V	MYH9_uc003aph.1_Missense_Mutation_p.L389V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	525	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCAGGGCCAGAATGCCCGGG	0.637		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.024245	0	12	138				
SAMM50	25813	broad.mit.edu	37	22	44364695	44364695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:44364695C>T	uc003bej.2	+	4	516	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	SAMM50_uc011aqd.1_5'UTR	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	107					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACACATGTCAAGGTACATA	0.408		NaN											0	0	0	0.00499	0	16	83				
CAND2	23066	broad.mit.edu	37	3	12858614	12858614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:12858614C>T	uc003bxk.2	+	10	2232	c.2183C>T	c.(2182-2184)TCT>TTT	p.S728F	CAND2_uc003bxj.2_Missense_Mutation_p.S635F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CAGCCAGCCTCTTTGGTGGAG	0.652		NaN											0	0	0	0.01441	0	65	81				
CBLB	868	broad.mit.edu	37	3	105400433	105400433	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:105400433G>C	uc003dwc.2	-	16	2640	c.2318C>G	c.(2317-2319)TCT>TGT	p.S773C	CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Missense_Mutation_p.S773C|CBLB_uc003dwe.1_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	773	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						CACGGGATCAGAGGCTGAATC	0.423		NaN	Mis S		AML								0	0	0	0.025465	0	36	74				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.00632	0	27	24		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	25	6		Valid		
LRPAP1	4043	broad.mit.edu	37	4	3516518	3516518	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:3516518G>A	uc003ghi.2	-	7	1057	c.972C>T	c.(970-972)CAC>CAT	p.H324H		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	324	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCAGCAGGGCGTGCTTCTCGC	0.672		NaN											0	0	0	0.012213	0	21	153				
SH3TC1	54436	broad.mit.edu	37	4	8224616	8224616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:8224616G>A	uc003gkv.3	+	10	1263	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E312K|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	388							binding			large_intestine(2)|pancreas(1)	3						ATTCTTCAGCGAGGGCTGCTT	0.488		NaN											0	0	0	0.023175	0	40	53				
SPATA18	132671	broad.mit.edu	37	4	52945953	52945953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:52945953C>T	uc003gzl.2	+	9	1501	c.1223C>T	c.(1222-1224)CCT>CTT	p.P408L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.P376L|SPATA18_uc003gzk.1_Missense_Mutation_p.P408L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	408					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTTCATTCCCTCCTGTCGTT	0.438		NaN											0	0	0	0.01441	0	128	159				
FRAS1	80144	broad.mit.edu	37	4	79403578	79403578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:79403578C>G	uc003hlb.2	+	58	9081	c.8641C>G	c.(8641-8643)CCG>GCG	p.P2881A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2876	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CACTCAGTATCCGGTAATTGA	0.453		NaN											0	0	0	0.01441	0	93	130				
EGF	1950	broad.mit.edu	37	4	110866376	110866376	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:110866376G>A	uc003hzy.3	+	5	1337	c.885G>A	c.(883-885)CTG>CTA	p.L295L	EGF_uc011cfu.1_Silent_p.L295L|EGF_uc011cfv.1_Silent_p.L295L	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	295	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGGTGAACTGAAAGTAGTGC	0.458		NaN											0	0	0	0.00499	0	15	19				
SEC24D	9871	broad.mit.edu	37	4	119736285	119736285	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:119736285G>A	uc003ici.3	-	6	971	c.699C>T	c.(697-699)GGC>GGT	p.G233G	SEC24D_uc003icj.3_Silent_p.G234G|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	233	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						ACAGTTGTGCGCCTGCCATCT	0.512		NaN											0	0	0	0.009718	0	45	38				
TBC1D9	23158	broad.mit.edu	37	4	141578845	141578845	+	Silent	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:141578845T>C	uc010ioj.2	-	12	2315	c.2043A>G	c.(2041-2043)CTA>CTG	p.L681L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	681	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGAGAAATAGTGTGAGGA	0.483		NaN											0	0	0	0.01441	0	61	60				
ADAM29	11086	broad.mit.edu	37	4	175898670	175898670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:175898670G>A	uc003iuc.2	+	5	2664	c.1994G>A	c.(1993-1995)GGC>GAC	p.G665D	ADAM29_uc003iud.2_Missense_Mutation_p.G665D|ADAM29_uc010irr.2_Missense_Mutation_p.G665D|ADAM29_uc011cki.1_Missense_Mutation_p.G665D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	665	Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGACAGTGGCCCACCCCCT	0.393		NaN											0	0	0	0.008361	0	29	27				
FAT1	2195	broad.mit.edu	37	4	187541182	187541182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:187541182G>C	uc003izf.2	-	10	6746	c.6558C>G	c.(6556-6558)TTC>TTG	p.F2186L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2186	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTGCACTGTAGAAAGGTTTTT	0.512		NaN								HNSCC(5;0.00058)			0	0	0	0.01441	0	62	72				
EXOC3	11336	broad.mit.edu	37	5	454125	454125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:454125G>C	uc003jba.2	+	4	1133	c.1005G>C	c.(1003-1005)GAG>GAC	p.E335D		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	346					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCCAATGAGATCGTGAGCC	0.542		NaN											0	0	0	0.020292	0	11	19				
PRLR	5618	broad.mit.edu	37	5	35065622	35065622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:35065622C>G	uc003jjm.2	-	10	1968	c.1438G>C	c.(1438-1440)GAA>CAA	p.E480Q	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E379Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	480	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)	TGGAAGCTTTCTACCTCCCTC	0.498		NaN											0	0	0	0.01441	0	52	77				
SLCO4C1	353189	broad.mit.edu	37	5	101585389	101585389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:101585389G>A	uc003knm.2	-	9	1860	c.1573C>T	c.(1573-1575)CCC>TCC	p.P525S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	525	Kazal-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAAGCAGGGAGAAAAATAT	0.418		NaN											0	0	0	0.00499	0	18	27				
PCDHA11	56138	broad.mit.edu	37	5	140249093	140249093	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:140249093C>G	uc003lia.2	+	1	1263	c.405C>G	c.(403-405)CTC>CTG	p.L135L	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_Silent_p.L135L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	135	Extracellular (Potential).				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)			TGTTCTCGCTCAGAGAACAAA	0.517		NaN											0	0	0	0.01441	0	202	261				
ADAM19	8728	broad.mit.edu	37	5	156946865	156946865	+	Silent	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:156946865G>T	uc003lwz.2	-	6	646	c.582C>A	c.(580-582)ACC>ACA	p.T194T	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T125T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	194					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGCTTCTTGGTCTGTTGTG	0.542		NaN											1	0	3.07002e-29	0.01441	3.24747e-29	53	91				
PANK3	79646	broad.mit.edu	37	5	167986163	167986163	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:167986163C>T	uc003lzz.1	-	6	1237	c.937_splice	c.e6-1	p.K313_splice	MIR103-1AS_hsa-mir-103-1-as|MI0007261_5'Flank	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGTTTATTTTCTAAAAGAAAA	0.249		NaN											0	0	0	0.00632	0	29	19				
OR2Y1	134083	broad.mit.edu	37	5	180167034	180167034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:180167034C>G	uc003mmf.1	-	1	25	c.25G>C	c.(25-27)GAA>CAA	p.E9Q		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCATCTTCAAAACTGGTG	0.438		NaN											0	0	0	0.01892	0	23	37				
SERPINB6	5269	broad.mit.edu	37	6	2954877	2954877	+	Missense_Mutation	SNP	C	C	T	rs146252067		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:2954877C>T	uc003muk.2	-	3	2374	c.379G>A	c.(379-381)GTA>ATA	p.V127I	SERPINB6_uc003mui.2_Missense_Mutation_p.V10I|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.V127I|SERPINB6_uc003mum.2_Missense_Mutation_p.V127I|SERPINB6_uc003mun.2_Missense_Mutation_p.V127I|SERPINB6_uc003muo.2_Missense_Mutation_p.V127I	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	127					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTCTCTACGGCGCTGATA	0.393		NaN											0	0	0	0.01441	0	49	74				
GCNT2	2651	broad.mit.edu	37	6	10621627	10621627	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:10621627C>T	uc010joo.2	+	4	1520	c.969C>T	c.(967-969)CTC>CTT	p.L323L	GCNT2_uc010jol.2_Silent_p.L37L|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Silent_p.L322L|GCNT2_uc003mzd.2_Silent_p.L321L|GCNT2_uc003mze.2_Silent_p.L323L	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	323	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGGAAACCTCAGAGCTATAA	0.507		NaN											0	0	0	0.010504	0	18	28				
ZKSCAN3	80317	broad.mit.edu	37	6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:28333766C>T	uc003nle.3	+	6	1537	c.1321C>T	c.(1321-1323)CTC>TTC	p.L441F	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L441F|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.L293F|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441	C2H2-type 5.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AAGTTCACATCTCCTGAGACA	0.498		NaN											0	0	0	0.024334	0	26	35				
DOM3Z	1797	broad.mit.edu	37	6	31938495	31938495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938495C>G	uc003nyo.1	-	3	1234	c.700G>C	c.(700-702)GAG>CAG	p.E234Q	DOM3Z_uc003nyp.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	234		GDP (By similarity).					identical protein binding|metal ion binding|nucleotide binding				0						CAGTCTACCTCCCCTGAGAAG	0.617		NaN											0	0	0	0.01441	0	85	105				
DOM3Z	1797	broad.mit.edu	37	6	31938905	31938905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938905C>G	uc003nyo.1	-	2	910	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	DOM3Z_uc003nyp.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nys.1_Missense_Mutation_p.E126Q|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	126							identical protein binding|metal ion binding|nucleotide binding				0						ACTATGGCCTCTGCCAGCCAG	0.592		NaN											0	0	0	0.01441	0	44	74				
HLA-DRB1	3123	broad.mit.edu	37	6	32551898	32551898	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:32551898C>T	uc003obp.3	-	2	401	c.358G>A	c.(358-360)GTG>ATG	p.V120M	HLA-DRB1_uc011dqa.1_Translation_Start_Site|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_RNA|HLA-DRB1_uc011dqb.1_5'Flank|HLA-DRB1_uc011dqc.1_Translation_Start_Site	NM_002124	NP_002115	P01911	2B1F_HUMAN	major histocompatibility complex, class II, DR	120	Beta-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				skin(1)	1						CGCCGCTGCACTGTGAAGCTC	0.527		NaN							Rheumatoid_Arthritis|Sj_gren_syndrome	Multiple Myeloma(14;0.17)			0	0	0	0.00308	0	7	15				
BAI3	577	broad.mit.edu	37	6	70098735	70098735	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:70098735G>C	uc003pev.3	+	32	4969	c.4521G>C	c.(4519-4521)CTG>CTC	p.L1507L	BAI3_uc010kak.2_Silent_p.L1507L|BAI3_uc011dxx.1_Silent_p.L713L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1507	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGAAGTGTCTGAATTTGCCTC	0.418		NaN											0	0	0	0.009535	0	28	28				
ASF1A	25842	broad.mit.edu	37	6	119221997	119221997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:119221997C>T	uc011ebn.1	+	2	513	c.176C>T	c.(175-177)TCT>TTT	p.S59F		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	59	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTTTTAGACTCTGTTTTAGTG	0.358		NaN											0	0	0	0.01441	0	82	110				
STX11	8676	broad.mit.edu	37	6	144508138	144508138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:144508138C>T	uc003qks.3	+	2	566	c.374C>T	c.(373-375)GCG>GTG	p.A125V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	125				HSAVAR -> ALGSGG (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCGGCAGTGGCGCGCATTTCG	0.672		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.00632	0	28	39				
FBXL18	80028	broad.mit.edu	37	7	5541202	5541202	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:5541202A>G	uc003soo.2	-	3	792	c.698T>C	c.(697-699)TTC>TCC	p.F233S	FBXL18_uc003son.3_Missense_Mutation_p.F233S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	233										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGCGCATAGAAGACCCGCAG	0.642		NaN											0	0	0	0.013537	0	13	87				
SP4	6671	broad.mit.edu	37	7	21550696	21550696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:21550696C>G	uc003sva.2	+	6	2345	c.2164C>G	c.(2164-2166)CTC>GTC	p.L722V	SP4_uc003svb.2_Missense_Mutation_p.L409V	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	722	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						GAGTGATCATCTCTCCAAACA	0.413		NaN											0	0	0	0.019004	0	38	41				
OSBPL3	26031	broad.mit.edu	37	7	24911608	24911608	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:24911608C>T	uc003sxf.2	-	3	582	c.177G>A	c.(175-177)CTG>CTA	p.L59L	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L59L|OSBPL3_uc003sxh.2_Silent_p.L59L|OSBPL3_uc003sxi.2_Silent_p.L59L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	59	PH.				lipid transport		lipid binding|protein binding			skin(1)	1						TCCTCTTTTTCAGCAAAAATC	0.502		NaN											0	0	0	0.008361	0	28	61				
POLM	27434	broad.mit.edu	37	7	44113402	44113402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:44113402G>A	uc003tjt.2	-	9	1386	c.1294C>T	c.(1294-1296)CTC>TTC	p.L432F	POLM_uc003tjw.1_Missense_Mutation_p.L51F|POLM_uc003tju.2_Missense_Mutation_p.L395F|POLM_uc003tjx.2_Missense_Mutation_p.L352F|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.L82F	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	432					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GTCCAACCGAGCAGGGCGAAA	0.657		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.012213	0	31	140				
ASL	435	broad.mit.edu	37	7	65553885	65553885	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:65553885C>T	uc003tuo.2	+	11	921	c.810C>T	c.(808-810)TTC>TTT	p.F270F	ASL_uc003tup.2_Silent_p.F270F|ASL_uc003tur.2_Silent_p.F244F|ASL_uc003tuq.2_Silent_p.F270F	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	270					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	AATTCAGCTTCGTGCAGCTCT	0.617		NaN											0	0	0	0.017118	0	38	41				
AGFG2	3268	broad.mit.edu	37	7	100151029	100151029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:100151029C>T	uc003uvf.2	+	4	627	c.491C>T	c.(490-492)CCT>CTT	p.P164L	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L26L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GCCTCCACCCCTGTGCAGGGC	0.547		NaN											0	0	0	0.01441	0	66	96				
ELP3	55140	broad.mit.edu	37	8	27995406	27995406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:27995406G>C	uc003xgo.3	+	10	1246	c.1098G>C	c.(1096-1098)CAG>CAC	p.Q366H	ELP3_uc003xgn.3_Missense_Mutation_p.Q351H|ELP3_uc011laq.1_Missense_Mutation_p.Q294H|ELP3_uc011lar.1_Missense_Mutation_p.Q274H|ELP3_uc011las.1_Missense_Mutation_p.Q247H|ELP3_uc011lat.1_Missense_Mutation_p.Q247H	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	366					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACCGAGTACAGAGGTAGTGTG	0.408		NaN											0	0	0	0.008291	0	11	13				
CYP7A1	1581	broad.mit.edu	37	8	59404977	59404977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:59404977C>G	uc003xtm.3	-	5	1213	c.1150G>C	c.(1150-1152)GAT>CAT	p.D384H		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	384					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGATGTCATCTTTTCGGATG	0.468		NaN							Neonatal_Giant_Cell_Hepatitis				0	0	0	0.01441	0	52	73				
CNBD1	168975	broad.mit.edu	37	8	87878760	87878760	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:87878760C>G	uc003ydy.2	+	1	85	c.37C>G	c.(37-39)CAC>GAC	p.H13D		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	13										ovary(3)	3						TATTTTGTCTCACATGACAGC	0.443		NaN											0	0	0	0.016723	0	12	13				
TP53INP1	94241	broad.mit.edu	37	8	95953097	95953097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:95953097C>G	uc003yhg.2	-	2	457	c.73G>C	c.(73-75)GAG>CAG	p.E25Q	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E25Q	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	25	Glu-rich.				apoptosis	PML body					0	Breast(36;8.75e-07)					TCTTCTTTCTCATTGAATTCT	0.398		NaN											0	0	0	0.023175	0	37	57				
TG	7038	broad.mit.edu	37	8	134042190	134042190	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:134042190C>T	uc003ytw.2	+	41	7202	c.7161C>T	c.(7159-7161)GGC>GGT	p.G2387G	TG_uc010mdw.2_Silent_p.G1146G|TG_uc011ljb.1_Silent_p.G756G|TG_uc011ljc.1_Silent_p.G520G	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2387					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)		CAGACCGTGGCGGGGCTGATG	0.647		NaN											0	0	0	0.006214	0	6	50				
MAPK15	225689	broad.mit.edu	37	8	144803972	144803972	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:144803972G>A	uc003yzj.2	+	13	1421	c.1380G>A	c.(1378-1380)GCG>GCA	p.A460A		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	460					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGCTGCGGCTCAGGTGG	0.672		NaN											0	0	0	0.016723	0	14	130				
ZNF16	7564	broad.mit.edu	37	8	146171568	146171568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:146171568C>T	uc003zet.2	-	3	212	c.25G>A	c.(25-27)GAG>AAG	p.E9K	ZNF16_uc003zeu.2_Missense_Mutation_p.E9K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTCCTCACGGCGAGTT	0.592		NaN											0	0	0	0.01441	0	52	57				
CNTLN	54875	broad.mit.edu	37	9	17466028	17466028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:17466028C>T	uc003zmz.2	+	22	3604	c.3578C>T	c.(3577-3579)TCA>TTA	p.S1193L	CNTLN_uc003zmy.2_Missense_Mutation_p.S1194L|CNTLN_uc010mio.2_Missense_Mutation_p.S873L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1194	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TCAATTGATTCACTAAAGCAA	0.299		NaN											0	0	0	0.027356	0	27	6				
ZNF658	26149	broad.mit.edu	37	9	40773179	40773179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:40773179G>C	uc004abs.2	-	5	2248	c.2096C>G	c.(2095-2097)TCA>TGA	p.S699*	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S699*	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	699	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGGGCTGAATTATGGGC	0.408		NaN											0	0	0	0.007835	0	35	145				
GOLGA2	2801	broad.mit.edu	37	9	131019750	131019750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:131019750C>T	uc011maw.1	-	25	2705	c.2692G>A	c.(2692-2694)GAG>AAG	p.E898K	GOLGA2_uc010mxw.2_Missense_Mutation_p.E221K|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	898						Golgi cisterna membrane	protein binding			ovary(1)	1						CCATGCCACTCGTTGCGGTCG	0.662		NaN											0	0	0	0.01441	0	47	7				
SPIN4	139886	broad.mit.edu	37	X	62570437	62570437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:62570437C>G	uc004dvf.2	-	1	782	c.262G>C	c.(262-264)GAA>CAA	p.E88Q		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	88					gamete generation					ovary(1)|lung(1)	2						CGGTGCAGTTCTAGTCCATAC	0.488		NaN											0	0	0	0.001984	0	7	18				
TAF1	6872	broad.mit.edu	37	X	70621446	70621446	+	Silent	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:70621446A>G	uc004dzu.3	+	25	3903	c.3852A>G	c.(3850-3852)CAA>CAG	p.Q1284Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.Q1305Q|TAF1_uc004dzv.3_Silent_p.Q458Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1284					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TCTATTATCAAACAAATGCGC	0.438		NaN											0	0	0	0.028581	0	17	60				
ITM2A	9452	broad.mit.edu	37	X	78616969	78616969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:78616969C>T	uc004edh.2	-	5	895	c.560G>A	c.(559-561)AGA>AAA	p.R187K	ITM2A_uc011mqr.1_Missense_Mutation_p.R143K	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	187	BRICHOS.					integral to membrane	protein binding			lung(2)	2						AGGCAGATATCTGCCACTCTA	0.264		NaN											0	0	0	0.008291	0	11	26				
MCTS1	28985	broad.mit.edu	37	X	119739341	119739341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:119739341G>A	uc004esx.2	+	2	439	c.91G>A	c.(91-93)GAG>AAG	p.E31K	MCTS1_uc011mub.1_Missense_Mutation_p.E32K	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	31					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TCAATTGATAGAGCAATTTCC	0.338		NaN											0	0	0	0.01441	0	75	9				
F8	2157	broad.mit.edu	37	X	154194885	154194885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:154194885C>G	uc004fmt.2	-	8	1258	c.1087G>C	c.(1087-1089)GAA>CAA	p.E363Q		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	363					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)	TCATAGTCTTCCGCTTCTTCA	0.413		NaN											0	0	0	0.011902	0	44	6				
CASZ1	54897	broad.mit.edu	37	1	10714109	10714109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:10714109delG	uc001aro.2	-	11	2325	c.2005delC	c.(2005-2007)CACfs	p.H669fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.H669fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.H693fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	669	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGATGCAGTGGAAGTGGTTG	0.607		NaN											NaN	NaN	NaN	NaN	NaN	12	249	---		---	---
FBXO44	93611	broad.mit.edu	37	1	11721281	11721282	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:11721281_11721282insC	uc001asm.2	+	6	845_846	c.719_720insC	c.(718-720)GGCfs	p.G240fs	FBXO44_uc001ask.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc001asl.2_Frame_Shift_Ins_p.G240fs|FBXO44_uc001asn.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc010oar.1_Frame_Shift_Ins_p.R230fs|FBXO44_uc010oas.1_Frame_Shift_Ins_p.G100fs|FBXO6_uc001aso.2_5'Flank	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	240	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGTACGGCCCGAGGGTCA	0.634		NaN											NaN	NaN	NaN	NaN	NaN	7	275	---		---	---
GATA3	2625	broad.mit.edu	37	10	8115929	8115929	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:8115929delA	uc001ika.2	+	6	1832	c.1275delA	c.(1273-1275)CCAfs	p.P425fs	GATA3_uc001ijz.2_Frame_Shift_Del_p.P426fs	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	425				P -> A (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TGCACCCGCCATCCAGCCTGT	0.662		NaN	F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						NaN	NaN	NaN	NaN	NaN	47	106	---		---	---
SSH3	54961	broad.mit.edu	37	11	67077296	67077312	+	Frame_Shift_Del	DEL	CACAGTGCTGGCCTATG	CACAGTGCTGGCCTATG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:67077296_67077312delCACAGTGCTGGCCTATG	uc001okj.2	+	12	1444_1460	c.1266_1282delCACAGTGCTGGCCTATG	c.(1264-1284)GCCACAGTGCTGGCCTATGCCfs	p.A422fs	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Frame_Shift_Del_p.A276fs	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	422_428	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCAGCGGCCACAGTGCTGGCCTATGCCATGAAGCA	0.664		NaN											NaN	NaN	NaN	NaN	NaN	58	247	---		---	---
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:59182564_59182565delCT	uc002afp.2	-	15	2082_2083	c.1994_1995delAG	c.(1993-1995)GAGfs	p.E665fs	SLTM_uc002afn.2_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.2_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.2_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	665	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTCTAGGCGCTCTCTCTCTCT	0.475		NaN											NaN	NaN	NaN	NaN	NaN	7	202	---		---	---
NPIP	9284	broad.mit.edu	37	16	15045471	15045471	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:15045471delG	uc002dcy.3	+	8	643	c.643_splice	c.e8-1	p.V215_splice	NPIP_uc002dcx.3_Splice_Site	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						TGGCCCTACAGGTCAGAATGG	0.483		NaN											NaN	NaN	NaN	NaN	NaN	17	4	---		---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:38882864_38882866delCCT	uc002oim.2	+	3	363_365	c.359_361delCCT	c.(358-363)CCCTCC>CCC	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.537		NaN											NaN	NaN	NaN	NaN	NaN	7	109	---		---	---
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs61734492	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54723027_54723029delCGT	uc002qef.1	-	8	1506_1508	c.1395_1397delACG	c.(1393-1398)CGACGT>CGT	p.465_466RR>R	LILRB3_uc002qee.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeh.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qek.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc010erh.1_In_Frame_Del_p.482_483RR>R|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qep.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeq.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_In_Frame_Del_p.465_466RR>R	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	465_466	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.498		NaN											NaN	NaN	NaN	NaN	NaN	11	103	---		---	---
CELSR1	9620	broad.mit.edu	37	22	46790119	46790120	+	Frame_Shift_Ins	INS	-	-	G	rs142032661	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:46790119_46790120insG	uc003bhw.1	-	14	5883_5884	c.5883_5884insC	c.(5881-5886)CCCGTCfs	p.P1961fs	CELSR1_uc011arc.1_Frame_Shift_Ins_p.P282fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1961_1962	Extracellular (Potential).|EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCCACAGACGGGGTTCCCCC	0.569		NaN											NaN	NaN	NaN	NaN	NaN	8	139	---		---	---
MICALL2	79778	broad.mit.edu	37	7	1474248	1474249	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:1474248_1474249insT	uc003skj.3	-	17	2845_2846	c.2698_2699insA	c.(2698-2700)AGCfs	p.S900fs	MICALL2_uc003skh.3_Frame_Shift_Ins_p.K107fs|MICALL2_uc003ski.3_Frame_Shift_Ins_p.K385fs	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	900						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGAGGGGCTGCTTTTGCTTTTT	0.639		NaN											NaN	NaN	NaN	NaN	NaN	7	238	---		---	---
PSIP1	11168	broad.mit.edu	37	9	15479597	15479609	+	Frame_Shift_Del	DEL	CGTCCTCTTTTAG	CGTCCTCTTTTAG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:15479597_15479609delCGTCCTCTTTTAG	uc003zlv.3	-	7	863_875	c.533_545delCTAAAAGAGGACG	c.(532-546)CCTAAAAGAGGACGAfs	p.P178fs	PSIP1_uc003zlw.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.P169fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.P178fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	178_182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCTGCAGGTCGTCCTCTTTTAGGACTCACTTT	0.362		NaN											NaN	NaN	NaN	NaN	NaN	10	17	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44950110	44950110	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:44950110delG	uc004dge.3	+	26	4253	c.3878_splice	c.e26+1	p.K1293_splice	KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAATGATTAAGTAAGTCTTTT	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	39	5	---	Valid	---	---
