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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
EPS15	2060	broad.mit.edu	37	1	51873905	51873905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:51873905G>C	uc001csq.1	-	15	1467	c.1375C>G	c.(1375-1377)CAA>GAA	p.Q459E	EPS15_uc009vyz.1_Intron|EPS15_uc001csp.3_Missense_Mutation_p.Q145E	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	459					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						GCTGTTTCTTGCTGTAGACGG	0.448		NA	T	MLL	ALL								24	81					0	0	0	0
CDCP2	200008	broad.mit.edu	37	1	54607036	54607036	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:54607036C>T	uc001cwv.1	-	3	1346	c.498G>A	c.(496-498)CCG>CCA	p.P166P		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	166	CUB 2.					extracellular region				ovary(1)	1						CCATGCTGTTCGGGTAGTTGT	0.607		NA											22	20					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152281946	152281946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:152281946A>C	uc001ezu.1	-	3	5452	c.5416T>G	c.(5416-5418)TCC>GCC	p.S1806A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1806	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTTGGGACGCTGAGTGC	0.592		NA							Ichthyosis				96	393					0	0	0	0
SERPINC1	462	broad.mit.edu	37	1	173883822	173883822	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:173883822T>G	uc001gjt.2	-	2	396	c.277A>C	c.(277-279)ACT>CCT	p.T93P		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	93					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGATAGAAAGTGGTAGCAAAG	0.522		NA									OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	85					0	0	0	0
FMN2	56776	broad.mit.edu	37	1	240256799	240256799	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:240256799G>A	uc010pyd.1	+	1	1615	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	FMN2_uc010pye.1_Missense_Mutation_p.A464T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	464					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGTAGCCGCCCCGGCCAA	0.726		NA											7	29					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55912867	55912867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912867C>T	uc001jju.1	-	14	2172	c.1777G>A	c.(1777-1779)GAG>AAG	p.E593K	PCDH15_uc010qhq.1_Missense_Mutation_p.E598K|PCDH15_uc010qhr.1_Missense_Mutation_p.E593K|PCDH15_uc010qhs.1_Missense_Mutation_p.E605K|PCDH15_uc010qht.1_Missense_Mutation_p.E600K|PCDH15_uc010qhu.1_Missense_Mutation_p.E593K|PCDH15_uc001jjv.1_Missense_Mutation_p.E571K|PCDH15_uc010qhv.1_Missense_Mutation_p.E593K|PCDH15_uc010qhw.1_Missense_Mutation_p.E556K|PCDH15_uc010qhx.1_Missense_Mutation_p.E593K|PCDH15_uc010qhy.1_Missense_Mutation_p.E598K|PCDH15_uc010qhz.1_Missense_Mutation_p.E593K|PCDH15_uc010qia.1_Missense_Mutation_p.E571K|PCDH15_uc010qib.1_Missense_Mutation_p.E571K|PCDH15_uc001jjw.2_Missense_Mutation_p.E593K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	593	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTTCGCTCTGCAGGAGGA	0.458		NA								HNSCC(58;0.16)			12	45					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55912869	55912869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912869G>T	uc001jju.1	-	14	2170	c.1775C>A	c.(1774-1776)GCA>GAA	p.A592E	PCDH15_uc010qhq.1_Missense_Mutation_p.A597E|PCDH15_uc010qhr.1_Missense_Mutation_p.A592E|PCDH15_uc010qhs.1_Missense_Mutation_p.A604E|PCDH15_uc010qht.1_Missense_Mutation_p.A599E|PCDH15_uc010qhu.1_Missense_Mutation_p.A592E|PCDH15_uc001jjv.1_Missense_Mutation_p.A570E|PCDH15_uc010qhv.1_Missense_Mutation_p.A592E|PCDH15_uc010qhw.1_Missense_Mutation_p.A555E|PCDH15_uc010qhx.1_Missense_Mutation_p.A592E|PCDH15_uc010qhy.1_Missense_Mutation_p.A597E|PCDH15_uc010qhz.1_Missense_Mutation_p.A592E|PCDH15_uc010qia.1_Missense_Mutation_p.A570E|PCDH15_uc010qib.1_Missense_Mutation_p.A570E|PCDH15_uc001jjw.2_Missense_Mutation_p.A592E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	592	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTCGCTCTGCAGGAGGAGC	0.458		NA								HNSCC(58;0.16)			12	47					5.17e-11	6.69e-11	1	0
LRRTM3	347731	broad.mit.edu	37	10	68687032	68687032	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:68687032A>G	uc001jmz.1	+	2	908	c.358A>G	c.(358-360)AGA>GGA	p.R120G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R120G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TAGTTCCAATAGAATCTCCTA	0.388		NA											25	99					0	0	0	0
C10orf2	56652	broad.mit.edu	37	10	102748351	102748351	+	Silent	SNP	C	C	T	rs148234280		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:102748351C>T	uc001ksf.2	+	1	1059	c.384C>T	c.(382-384)AGC>AGT	p.S128S	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.S128S|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	128					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCCAGGCCAGCGTGGAGGGGC	0.582		NA											25	167					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	107012616	107012616	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:107012616C>A	uc001kyi.1	+	23	3416	c.3189C>A	c.(3187-3189)CCC>CCA	p.P1063P	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1063	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCTTCCACCCAAGAACCTGA	0.517		NA											11	56					6.4e-05	7.89e-05	1	0
B4GALNT4	338707	broad.mit.edu	37	11	376312	376312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:376312G>A	uc001lpb.2	+	13	1267	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	420	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAAGAAGACGAGGTGCAGCG	0.642		NA											5	29					0	0	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991166	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:2991166T>A	uc001lxc.2	-	7	544	c.403_splice	c.e7-1	p.G135_splice	NAP1L4_uc010qxm.1_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.1_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418		NA											4	52					0	0	0	0
ILK	3611	broad.mit.edu	37	11	6631166	6631166	+	Splice_Site	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:6631166G>A	uc001mee.2	+	11	1114	c.979_splice	c.e11-1	p.I327_splice	ILK_uc001mef.2_Splice_Site_p.I327_splice|ILK_uc010rap.1_Splice_Site_p.I193_splice|ILK_uc010raq.1_Splice_Site_p.I266_splice|ILK_uc001meg.2_Splice_Site_p.I173_splice|ILK_uc001meh.2_Splice_Site_p.I327_splice|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase						cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCTTCCTCAGATTGATGAGG	0.512		NA											6	103					0	0	0	0
C11orf41	25758	broad.mit.edu	37	11	33566766	33566766	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:33566766C>A	uc001mup.3	+	2	2478	c.2354C>A	c.(2353-2355)ACA>AAA	p.T785K	C11orf41_uc001mun.1_Missense_Mutation_p.T785K	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	779						integral to membrane				ovary(2)	2						GCCGCGCTGACATCCATTACA	0.602		NA											30	56					7.01e-11	9.05e-11	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926374	45926374	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:45926374C>A	uc001nbr.2	+	9	2052	c.1882C>A	c.(1882-1884)CAG>AAG	p.Q628K		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	628	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		CGATGACTCCCAGGAGGCCAA	0.612		NA											13	213					2.27e-07	2.87e-07	1	0
CEP57	9702	broad.mit.edu	37	11	95564382	95564382	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:95564382A>G	uc001pfp.1	+	11	1686	c.1465A>G	c.(1465-1467)AAT>GAT	p.N489D	CEP57_uc010ruh.1_Missense_Mutation_p.N480D|CEP57_uc010rui.1_Missense_Mutation_p.N463D|CEP57_uc009ywn.1_Missense_Mutation_p.N337D|CEP57_uc001pfq.1_Missense_Mutation_p.N463D|CEP57_uc001pfr.1_Missense_Mutation_p.N337D	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	489	Mediates interaction with microtubules (By similarity).|Potential.				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCATACAGAATTCATTACA	0.343		NA							Mosaic_Variegated_Aneuploidy_Syndrome				17	8					0	0	0	0
TBCEL	219899	broad.mit.edu	37	11	120957653	120957653	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:120957653C>G	uc009zay.2	+	8	1201	c.1123C>G	c.(1123-1125)CTA>GTA	p.L375V	TBCEL_uc001pxo.2_Missense_Mutation_p.L375V|TBCEL_uc001pxp.2_Missense_Mutation_p.L231V|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	375	Ubiquitin-like.|Potential.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTTAAAAACTCTAGTACAATT	0.433		NA											4	14					0	0	0	0
OR10G4	390264	broad.mit.edu	37	11	123886869	123886869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:123886869G>T	uc010sac.1	+	1	588	c.588G>T	c.(586-588)ATG>ATT	p.M196I		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAACGTGATGGTCATCTTTG	0.547		NA											30	109					5.92e-21	7.98e-21	1	0
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:48196010C>T	uc010slo.1	-	2	262	c.67G>A	c.(67-69)GCA>ACA	p.A23T	HDAC7_uc001rqj.3_Missense_Mutation_p.A23T|HDAC7_uc001rqk.3_Intron	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602		NA									OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0	0
KIAA0748	9840	broad.mit.edu	37	12	55356372	55356372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:55356372C>A	uc001sgn.3	-	9	1420	c.1310G>T	c.(1309-1311)AGA>ATA	p.R437I	KIAA0748_uc001sgl.3_Missense_Mutation_p.R299I|KIAA0748_uc001sgm.3_Missense_Mutation_p.R184I|KIAA0748_uc010spb.1_Missense_Mutation_p.R184I|KIAA0748_uc010spc.1_Missense_Mutation_p.R299I|KIAA0748_uc010spd.1_Missense_Mutation_p.R437I|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	437										ovary(1)|central_nervous_system(1)	2						CTTTCTTGCTCTGCTCTTTCT	0.493		NA											39	212					2.76e-19	3.71e-19	1	0
PA2G4	5036	broad.mit.edu	37	12	56498590	56498590	+	Missense_Mutation	SNP	G	G	A	rs144476801		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:56498590G>A	uc001sjm.2	+	1	488	c.69G>A	c.(67-69)ATG>ATA	p.M23I	PA2G4_uc009zol.2_Missense_Mutation_p.M23I|PA2G4_uc009zom.2_Missense_Mutation_p.M23I	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	23	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTATAAGATGGGGGGCGACA	0.607		NA											19	113					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111758419	111758419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:111758419C>T	uc001tsa.1	+	17	2759	c.2606C>T	c.(2605-2607)CCG>CTG	p.P869L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	869						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCCTACTACCCGGCCTACGTG	0.726		NA											5	2					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32729801	32729801	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr13:32729801T>A	uc001utx.2	+	15	2147	c.1651_splice	c.e15+2	p.G551_splice	FRY_uc010tdw.1_Splice_Site	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATGATAGGTGAGTTTCAGA	0.348		NA											4	9					0	0	0	0
TDP1	55775	broad.mit.edu	37	14	90509414	90509414	+	Missense_Mutation	SNP	A	A	G	rs148839664		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:90509414A>G	uc001xxy.2	+	17	2053	c.1754A>G	c.(1753-1755)GAT>GGT	p.D585G	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.D585G|TDP1_uc010atn.2_3'UTR|TDP1_uc001xya.2_Missense_Mutation_p.D346G|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I549V	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	585					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTTCCCCCAGATCGGCCATGG	0.418		NA						Repair_of_DNA-protein_crosslinks					11	129					0	0	0	0
BCL11B	64919	broad.mit.edu	37	14	99640654	99640654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:99640654G>A	uc001yga.2	-	4	2786	c.2519C>T	c.(2518-2520)ACG>ATG	p.T840M	BCL11B_uc001ygb.2_Missense_Mutation_p.T769M	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	840	C2H2-type 5.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGTGGCGCGTGAGCTTGCT	0.622		NA	T	TLX3	T-ALL								6	42					0	0	0	0
RAD51	5888	broad.mit.edu	37	15	41022163	41022163	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:41022163C>T	uc001zmi.3	+	9	1186	c.887C>T	c.(886-888)TCA>TTA	p.S296L	RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Missense_Mutation_p.S297L|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.S297L	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	296					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCCCATGCATCAACAACCAGG	0.408		NA						Homologous_recombination					19	23					0	0	0	0
MYEF2	50804	broad.mit.edu	37	15	48441469	48441469	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:48441469G>C	uc001zwi.3	-	15	1602	c.1478C>G	c.(1477-1479)GCT>GGT	p.A493G	MYEF2_uc001zwg.3_Missense_Mutation_p.A31G|MYEF2_uc001zwh.3_Missense_Mutation_p.A81G|MYEF2_uc001zwj.3_Missense_Mutation_p.A469G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	493	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCCAGTATAGCTCCTATACC	0.488		NA											19	96					0	0	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703589	65703589	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:65703589C>T	uc002aou.1	-	2	400	c.190G>A	c.(190-192)GCT>ACT	p.A64T		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	64	Ig-like C2-type 1.|Extracellular (Potential).|Poly-Ala.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGGGGTCCAGCGGCAGCAGCC	0.642		NA											15	30					0	0	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316600	78316600	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78316600C>A	uc002bcy.3	-	6	1368	c.1368G>T	c.(1366-1368)AAG>AAT	p.K456N	TBC1D2B_uc010bla.2_Missense_Mutation_p.K456N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	456	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						CCTCGCTGAGCTTGATGATGA	0.617		NA											19	45					5.39e-06	6.74e-06	1	0
IREB2	3658	broad.mit.edu	37	15	78758639	78758639	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78758639G>C	uc002bdr.2	+	5	599	c.437G>C	c.(436-438)GGA>GCA	p.G146A	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.G146A	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	146							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CCAAATCCTGGAGGTGGTGAC	0.433		NA											4	35					0	0	0	0
RHOT2	89941	broad.mit.edu	37	16	723125	723125	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:723125C>T	uc002cip.2	+	18	1792	c.1725C>T	c.(1723-1725)GCC>GCT	p.A575A	RHOT2_uc002ciq.2_Silent_p.A468A|RHOT2_uc010bqy.2_Silent_p.A354A|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	575	Miro 2.|Mitochondrial intermembrane (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)				CCATGGCCGCCTTCCCGTGGG	0.667		NA											6	24					0	0	0	0
TSC2	7249	broad.mit.edu	37	16	2134999	2134999	+	Nonsense_Mutation	SNP	C	C	G	rs137854193		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:2134999C>G	uc002con.2	+	35	4647	c.4541C>G	c.(4540-4542)TCA>TGA	p.S1514*	TSC2_uc010bsd.2_Nonsense_Mutation_p.S1491*|TSC2_uc002coo.2_Nonsense_Mutation_p.S1447*|TSC2_uc010uvv.1_Nonsense_Mutation_p.S1411*|TSC2_uc010uvw.1_Nonsense_Mutation_p.S1399*|TSC2_uc002cop.2_Nonsense_Mutation_p.S1270*|TSC2_uc002coq.2_Nonsense_Mutation_p.S289*|TSC2_uc002cor.2_Nonsense_Mutation_p.S215*	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1514					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GGCGACGAGTCAAACAAGCCA	0.637		NA	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				3	40					0	0	0	0
NLRC3	197358	broad.mit.edu	37	16	3614104	3614104	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:3614104G>A	uc010btn.2	-	5	1245	c.834C>T	c.(832-834)GGC>GGT	p.G278G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	278	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GGTCCACCAGGCCCCCTGGGA	0.592		NA											18	34					0	0	0	0
PRR14	78994	broad.mit.edu	37	16	30665627	30665627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:30665627C>G	uc002dyy.2	+	7	883	c.625C>G	c.(625-627)CTG>GTG	p.L209V	PRR14_uc002dyz.2_Missense_Mutation_p.L54V|PRR14_uc002dza.2_Missense_Mutation_p.L209V|PRR14_uc002dzb.1_Missense_Mutation_p.L23V	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	209	Pro-rich.										0			Colorectal(24;0.103)			GCCATCTGCTCTGCCTGCAGA	0.577		NA											4	182					0	0	0	0
CTU2	348180	broad.mit.edu	37	16	88776402	88776402	+	Missense_Mutation	SNP	G	G	A	rs149997219	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:88776402G>A	uc002flm.2	+	3	248	c.200G>A	c.(199-201)CGG>CAG	p.R67Q	CTU2_uc002fln.2_Missense_Mutation_p.R67Q|CTU2_uc010chz.2_Missense_Mutation_p.R67Q|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	67					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GGCAAGAACCGGCTCATCTTT	0.612		NA											42	68					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7577090C>G	uc002gim.2	-	8	1042	c.848G>C	c.(847-849)CGC>CCC	p.R283P	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	40					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	48					0	0	0	0
NOS2	4843	broad.mit.edu	37	17	26089930	26089930	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:26089930G>A	uc002gzu.2	-	22	2958	c.2694C>T	c.(2692-2694)TCC>TCT	p.S898S		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGAGCTGGGAAAGCAGGA	0.592		NA											5	5					0	0	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407106	28407106	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:28407106G>A	uc002het.2	+	16	3236	c.3044G>A	c.(3043-3045)GGA>GAA	p.G1015E	EFCAB5_uc010cse.2_Missense_Mutation_p.G770E|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1015							calcium ion binding			ovary(1)|skin(1)	2						GAAGCCCATGGAAATAAAAAG	0.428		NA											16	94					0	0	0	0
SUZ12	23512	broad.mit.edu	37	17	30302527	30302527	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:30302527T>C	uc002hgs.2	+	7	840	c.618T>C	c.(616-618)GTT>GTC	p.V206V	SUZ12_uc002hgt.2_Silent_p.V183V	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	206					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAAGGCAAGTTCCCACAGGTA	0.328		NA	T	JAZF1	endometrial stromal tumours								22	35					0	0	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890757	45890757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45890757C>T	uc002ilx.1	-	16	1815	c.1612G>A	c.(1612-1614)GCC>ACC	p.A538T	OSBPL7_uc002ilw.1_Missense_Mutation_p.A100T	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	538					lipid transport		lipid binding				0						ACAGCAAAGGCTGCGATGTAC	0.622		NA											15	28					0	0	0	0
CSHL1	1444	broad.mit.edu	37	17	61988275	61988275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:61988275G>T	uc002jda.1	-	2	82	c.20C>A	c.(19-21)ACG>AAG	p.T7K	CSHL1_uc002jcz.1_Missense_Mutation_p.T7K|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Missense_Mutation_p.T7K|CSHL1_uc002jde.2_Missense_Mutation_p.T35K|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.T7K|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	7						extracellular region	hormone activity|metal ion binding				0						GAGCAGGGACGTCCGGGAGCC	0.582		NA											12	38					9.05e-12	1.19e-11	1	0
SCN4A	6329	broad.mit.edu	37	17	62029168	62029168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:62029168C>G	uc002jds.1	-	14	2546	c.2469G>C	c.(2467-2469)CAG>CAC	p.Q823H		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	823					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CGATGGCAATCTGCAGGTTGT	0.602		NA											3	6					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65105354	65105354	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:65105354G>T	uc010wqk.1	-	29	4557	c.4370C>A	c.(4369-4371)CCC>CAC	p.P1457H	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P1456H|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTGCAGCATGGGAGGGGGCTG	0.532		NA											17	70					2.23e-06	2.8e-06	1	0
GALR2	8811	broad.mit.edu	37	17	74073206	74073206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:74073206C>A	uc002jqm.1	+	2	939	c.858C>A	c.(856-858)TGC>TGA	p.C286*	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	286	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCAACTCCTGCGTCAACCCCA	0.662		NA											4	24					0.00024832	0.000303345	1	0
TNRC6C	57690	broad.mit.edu	37	17	76046391	76046391	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76046391G>A	uc002jud.2	+	4	1848	c.1248G>A	c.(1246-1248)ACG>ACA	p.T416T	TNRC6C_uc002juf.2_Silent_p.T416T|TNRC6C_uc002jue.2_Silent_p.T416T	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	416	Sufficient for interaction with argonaute family proteins.|Gly-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGAAGGAACGGGAGAAGGCC	0.507		NA											29	74					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78337076	78337076	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78337076G>A	uc002jyh.1	+	15	5972	c.5749G>A	c.(5749-5751)GAA>AAA	p.E1917K	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E299K	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)			CAGCCTGATGGAAGCCCGTTG	0.567		NA											18	87					0	0	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103824	55103824	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:55103824G>C	uc002lgo.2	+	1	908	c.876G>C	c.(874-876)CTG>CTC	p.L292L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	292					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGTCGCACCTGAACGGCCTGC	0.706		NA											7	41					0	0	0	0
SOCS6	9306	broad.mit.edu	37	18	67993288	67993288	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:67993288A>G	uc002lkr.1	+	2	1700	c.1384A>G	c.(1384-1386)ATC>GTC	p.I462V	SOCS6_uc010dqq.2_Missense_Mutation_p.I462V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	462	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAGCATTCAATCAGGGACTC	0.448		NA											7	41					0	0	0	0
BTBD2	55643	broad.mit.edu	37	19	1993166	1993166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:1993166G>C	uc002lup.1	-	3	537	c.537C>G	c.(535-537)TAC>TAG	p.Y179*	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	179	BTB.					cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCCGAGTAGAGAAACC	0.647		NA											5	24					0	0	0	0
ZNF846	162993	broad.mit.edu	37	19	9869059	9869059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:9869059C>T	uc002mmb.1	-	6	1225	c.694G>A	c.(694-696)GGG>AGG	p.G232R	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.G103R|ZNF846_uc002mmc.1_Missense_Mutation_p.G103R	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	232	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGGCTTTCCCACATTCCTTA	0.383		NA											14	40					0	0	0	0
KRI1	65095	broad.mit.edu	37	19	10665783	10665783	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:10665783G>C	uc002moy.1	-	18	1788	c.1779C>G	c.(1777-1779)TTC>TTG	p.F593L	KRI1_uc002mow.1_Missense_Mutation_p.F212L|KRI1_uc002mox.1_Missense_Mutation_p.F589L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	593										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGAGTGACTTGAAGACCTGCC	0.343		NA											8	43					0	0	0	0
ZNF791	163049	broad.mit.edu	37	19	12739064	12739064	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:12739064G>A	uc002mua.2	+	4	883	c.721G>A	c.(721-723)GAG>AAG	p.E241K	ZNF791_uc010xml.1_Missense_Mutation_p.E209K|ZNF791_uc010dyu.1_Missense_Mutation_p.E132K|ZNF791_uc010xmm.1_Missense_Mutation_p.E132K	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TCACACTGGAGAGAAACCCTA	0.413		NA											4	38					0	0	0	0
KCNN1	3780	broad.mit.edu	37	19	18084972	18084972	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:18084972G>A	uc002nht.2	+	3	585	c.275G>A	c.(274-276)CGC>CAC	p.R92H	KCNN1_uc010xqa.1_Missense_Mutation_p.R92H	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	92					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						GTGGGCCACCGCCTGGGCCAC	0.647		NA											17	9					0	0	0	0
ARMC6	93436	broad.mit.edu	37	19	19153573	19153573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:19153573C>T	uc002nld.2	+	3	431	c.83C>T	c.(82-84)TCC>TTC	p.S28F	ARMC6_uc002nlc.2_Missense_Mutation_p.S3F|ARMC6_uc010xql.1_Intron|ARMC6_uc002nle.2_Missense_Mutation_p.S3F|ARMC6_uc010xqm.1_Missense_Mutation_p.S28F	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	28							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGATGGTCTCCAAGCGCATT	0.577		NA											7	45					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728196	20728196	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:20728196G>A	uc002npa.2	-	4	993	c.813C>T	c.(811-813)AAC>AAT	p.N271N		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	271					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GTGTAGTAAGGTTAGAGGAGC	0.413		NA											3	25					0	0	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205889	36205889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:36205889G>A	uc002oay.2	+	2	571	c.361G>A	c.(361-363)GAT>AAT	p.D121N	ZBTB32_uc002oaz.2_RNA	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	121					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAAAAAGCCAGATCCAGGCCT	0.587		NA											182	322					0	0	0	0
ZNF567	163081	broad.mit.edu	37	19	37210699	37210699	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37210699C>A	uc010xtl.1	+	6	1295	c.1073C>A	c.(1072-1074)ACT>AAT	p.T358N	ZNF567_uc002oeo.1_Missense_Mutation_p.T358N|ZNF567_uc010xtk.1_Missense_Mutation_p.T358N|ZNF567_uc002oep.3_Missense_Mutation_p.T327N|ZNF567_uc002oeq.1_Missense_Mutation_p.T327N	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	358	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAGAACTCACACGGGA	0.448		NA											9	37					3.1e-07	3.9e-07	1	0
ZNF420	147923	broad.mit.edu	37	19	37619879	37619879	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37619879G>C	uc002ofl.2	+	5	2201	c.1986G>C	c.(1984-1986)CAG>CAC	p.Q662H		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	662	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAACATCAGAGAATTCATA	0.373		NA											7	54					0	0	0	0
RASIP1	54922	broad.mit.edu	37	19	49224214	49224214	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:49224214G>A	uc002pki.2	-	12	2930	c.2733C>T	c.(2731-2733)ATC>ATT	p.I911I	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Silent_p.I172I	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	911					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGGGGGAGGATGAGGGGCG	0.642		NA											7	29					0	0	0	0
ZNF766	90321	broad.mit.edu	37	19	52794352	52794352	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:52794352G>A	uc002pyr.1	+	4	1351	c.1308G>A	c.(1306-1308)GAG>GAA	p.E436E	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.E451E	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ACACTGGAGAGAAACCTTACA	0.413		NA											8	103					0	0	0	0
C19orf51	352909	broad.mit.edu	37	19	55670431	55670431	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:55670431C>G	uc002qji.1	-	12	1659	c.1625G>C	c.(1624-1626)TGA>TCA	p.*542S	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Nonstop_Mutation_p.*357S|C19orf51_uc002qjj.1_Nonstop_Mutation_p.*589S|C19orf51_uc002qjk.1_Nonstop_Mutation_p.*488S|C19orf51_uc002qjl.1_Nonstop_Mutation_p.*609S			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	542											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGGTTGGGTCAGACTCCAGT	0.542		NA											6	34					0	0	0	0
TPO	7173	broad.mit.edu	37	2	1481015	1481015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:1481015C>T	uc002qww.2	+	8	1068	c.977C>T	c.(976-978)GCG>GTG	p.A326V	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A326V|TPO_uc002qwr.2_Missense_Mutation_p.A326V|TPO_uc002qwx.2_Missense_Mutation_p.A326V|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.A326V	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	326	Extracellular (Potential).		A -> T (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCTGGACGCGTCCACCGTG	0.701		NA											7	14					0	0	0	0
CEBPZ	10153	broad.mit.edu	37	2	37449559	37449559	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:37449559C>G	uc002rpz.2	-	4	2059	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	677					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GAAGCAACCTCTGGTTTTTTG	0.353		NA											11	74					0	0	0	0
NCAPH	23397	broad.mit.edu	37	2	97024809	97024809	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:97024809G>T	uc002svz.1	+	10	1319	c.1235G>T	c.(1234-1236)GGA>GTA	p.G412V	NCAPH_uc010fhu.1_Missense_Mutation_p.G388V|NCAPH_uc010fhv.1_Missense_Mutation_p.G401V|NCAPH_uc010yum.1_Missense_Mutation_p.G388V|NCAPH_uc010fhw.1_Missense_Mutation_p.G401V|NCAPH_uc010yun.1_Missense_Mutation_p.G276V|NCAPH_uc002swa.1_Missense_Mutation_p.G7V	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	412					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CTTGGGGATGGAGACATCAGG	0.433		NA											12	76					5.51e-06	6.85e-06	1	0
IL18R1	8809	broad.mit.edu	37	2	103006518	103006518	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:103006518G>T	uc002tbw.3	+	9	1102	c.952G>T	c.(952-954)GAC>TAC	p.D318Y	IL18R1_uc010ywc.1_Splice_Site_p.D317_splice|IL18R1_uc010ywd.1_Splice_Site_p.D162_splice|IL18R1_uc010fiy.2_Missense_Mutation_p.D318Y	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	318	Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						TTTTCTAGCAGACATGGCTGA	0.403		NA											19	26					2.35e-11	3.07e-11	1	0
MERTK	10461	broad.mit.edu	37	2	112705062	112705062	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:112705062G>C	uc002thk.1	+	4	797	c.675G>C	c.(673-675)GAG>GAC	p.E225D	MERTK_uc002thl.1_Missense_Mutation_p.E49D	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	225	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						GCCCGCCTGAGCCCGTCAACA	0.532		NA											37	61					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141528566	141528566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:141528566G>A	uc002tvj.1	-	34	6482	c.5510C>T	c.(5509-5511)TCC>TTC	p.S1837F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1837	Extracellular (Potential).|EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGTTGGCAGGAATTGCTGCC	0.299		NA								TSP Lung(27;0.18)			10	23					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160240133	160240133	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:160240133C>G	uc002uao.2	-	24	4097	c.3745G>C	c.(3745-3747)GAA>CAA	p.E1249Q	BAZ2B_uc002uap.2_Missense_Mutation_p.E1213Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AGTTTACCTTCTACCACCCAT	0.303		NA											6	26					0	0	0	0
SLC4A10	57282	broad.mit.edu	37	2	162728868	162728868	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:162728868G>A	uc002ubx.3	+	7	1016	c.832G>A	c.(832-834)GAA>AAA	p.E278K	SLC4A10_uc010fpa.1_Missense_Mutation_p.E290K|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.E278K|SLC4A10_uc010zcs.1_Missense_Mutation_p.E289K	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	278	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGTTAGCAGAGAAAACAGCAC	0.373		NA									OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	85					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990126	197990126	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990126G>T	uc002uuc.2	-	6	696	c.529C>A	c.(529-531)CTG>ATG	p.L177M	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.L152M|ANKRD44_uc002uub.2_Missense_Mutation_p.L177M|ANKRD44_uc010zgw.1_Missense_Mutation_p.L105M	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	177	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCCAGTGCAGAGCACGCCGG	0.428		NA											31	91					7.11e-15	9.47e-15	1	0
ANKRD44	91526	broad.mit.edu	37	2	197990157	197990157	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990157G>C	uc002uuc.2	-	6	665	c.498C>G	c.(496-498)ATC>ATG	p.I166M	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.I141M|ANKRD44_uc002uub.2_Missense_Mutation_p.I166M|ANKRD44_uc010zgw.1_Missense_Mutation_p.I94M	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	166	ANK 5.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAAATGCATTGATATTTGCCC	0.438		NA											34	108					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990618	197990618	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990618G>A	uc002uuc.2	-	5	572	c.405C>T	c.(403-405)GTC>GTT	p.V135V	ANKRD44_uc002uua.1_Silent_p.V110V|ANKRD44_uc002uub.2_Silent_p.V135V|ANKRD44_uc010zgw.1_Silent_p.V63V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	135	ANK 4.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557		NA											29	125					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990624	197990624	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990624G>A	uc002uuc.2	-	5	566	c.399C>T	c.(397-399)GTC>GTT	p.V133V	ANKRD44_uc002uua.1_Silent_p.V108V|ANKRD44_uc002uub.2_Silent_p.V133V|ANKRD44_uc010zgw.1_Silent_p.V61V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	133	ANK 4.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGAGACATTGACACTGCTCA	0.547		NA											32	128					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990663	197990663	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990663G>A	uc002uuc.2	-	5	527	c.360C>T	c.(358-360)GTC>GTT	p.V120V	ANKRD44_uc002uua.1_Silent_p.V95V|ANKRD44_uc002uub.2_Silent_p.V120V|ANKRD44_uc010zgw.1_Silent_p.V48V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	120	ANK 4.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGCACATTTGACAGCCTTGT	0.552		NA											41	138					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990752	197990752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990752G>A	uc002uuc.2	-	5	438	c.271C>T	c.(271-273)CAG>TAG	p.Q91*	ANKRD44_uc002uua.1_Nonsense_Mutation_p.Q66*|ANKRD44_uc002uub.2_Nonsense_Mutation_p.Q91*|ANKRD44_uc010zgw.1_Nonsense_Mutation_p.Q19*	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	91	ANK 3.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAAAACCTGTACTGCTTCC	0.463		NA											27	94					0	0	0	0
THAP4	51078	broad.mit.edu	37	2	242542453	242542453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:242542453C>G	uc002wbt.2	-	4	1665	c.1442G>C	c.(1441-1443)AGA>ACA	p.R481T	THAP4_uc002wbs.2_Missense_Mutation_p.R69T	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	481							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCCACACTCTCTGTGCATCGG	0.632		NA											20	47					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34091852	34091852	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:34091852G>A	uc002xcm.2	+	31	6326	c.5655G>A	c.(5653-5655)CTG>CTA	p.L1885L	CEP250_uc010zve.1_Silent_p.L1253L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1885	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCAGGCCCTGGAGGAGGTGC	0.617		NA											12	31					0	0	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671654	39671654	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr21:39671654G>A	uc002ywv.2	+	4	773	c.471G>A	c.(469-471)GAG>GAA	p.E157E	KCNJ15_uc002yww.2_Silent_p.E157E|KCNJ15_uc002ywx.2_Silent_p.E157E	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	157	Helical; Name=M2; (By similarity).	Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CCTTGATTGAGATCTTCATCA	0.512		NA											9	47					0	0	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41623845	41623845	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:41623845G>A	uc003azo.2	+	15	1914	c.1860G>A	c.(1858-1860)AAG>AAA	p.K620K	L3MBTL2_uc010gyi.1_3'UTR|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	620	Poly-Lys.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						AGGCCACAAAGAAGAAAAAGA	0.572		NA											6	36					0	0	0	0
CRTAP	10491	broad.mit.edu	37	3	33174068	33174068	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:33174068C>A	uc003cfl.3	+	5	1064	c.944C>A	c.(943-945)GCC>GAC	p.A315D	CRTAP_uc010hfz.2_Missense_Mutation_p.A272D|CRTAP_uc003cfm.2_Missense_Mutation_p.A136D|CRTAP_uc003cfn.2_Missense_Mutation_p.A136D	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	315						proteinaceous extracellular matrix	binding				0						AAGAATGCAGCCCCCTGTGCA	0.473		NA											57	31					7.48e-22	1.01e-21	1	0
NKTR	4820	broad.mit.edu	37	3	42660540	42660540	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:42660540G>C	uc003clo.2	+	4	309	c.162G>C	c.(160-162)GGG>GGC	p.G54G	NKTR_uc003cll.1_Silent_p.G54G|NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_5'UTR|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	54	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACAACTGGGAAGAAGTTAT	0.348		NA											10	28					0	0	0	0
PARP3	10039	broad.mit.edu	37	3	51979210	51979210	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:51979210G>T	uc003dby.2	+	6	1202	c.831G>T	c.(829-831)GAG>GAT	p.E277D	PARP3_uc003dbz.2_Missense_Mutation_p.E284D	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	277	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCCCTGAGCTTCTGCAGG	0.627		NA											29	14					9.39e-14	1.24e-13	1	0
PROS1	5627	broad.mit.edu	37	3	93603601	93603601	+	Missense_Mutation	SNP	G	G	C	rs5017714		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:93603601G>C	uc003drb.3	-	12	1804	c.1463C>G	c.(1462-1464)TCT>TGT	p.S488C	PROS1_uc010hoo.2_Missense_Mutation_p.S357C|PROS1_uc003dqz.3_Missense_Mutation_p.S357C	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	488	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGCAATTCCAGAACCAGGATA	0.313		NA											7	40					0	0	0	0
C3orf17	25871	broad.mit.edu	37	3	112724658	112724658	+	Missense_Mutation	SNP	G	G	A	rs143719239	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:112724658G>A	uc003dzr.2	-	9	1490	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.R102W|C3orf17_uc011bhz.1_Missense_Mutation_p.R102W|C3orf17_uc010hqh.2_Missense_Mutation_p.R102W|C3orf17_uc003dzt.2_Missense_Mutation_p.R380W|C3orf17_uc003dzs.2_Missense_Mutation_p.R341W|C3orf17_uc010hqg.2_Missense_Mutation_p.R302W|C3orf17_uc011bia.1_Missense_Mutation_p.R274W|C3orf17_uc003dzu.2_Missense_Mutation_p.R406W|C3orf17_uc011bib.1_Missense_Mutation_p.R366W|C3orf17_uc011bic.1_Missense_Mutation_p.R310W|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	477						integral to membrane					0						GCACTCTTCCGAGTCCCTTGA	0.433		NA											8	62					0	0	0	0
TMEM22	80723	broad.mit.edu	37	3	136573476	136573476	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:136573476G>C	uc003erf.3	+	2	388	c.174G>C	c.(172-174)CTG>CTC	p.L58L	TMEM22_uc003erg.3_Silent_p.L58L|TMEM22_uc010hub.2_Silent_p.L58L	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	58						Golgi apparatus|integral to membrane				ovary(1)	1						AAGGTCTGCTGAGTGAAATGA	0.398		NA											23	184					0	0	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281716	140281716	+	Missense_Mutation	SNP	C	C	T	rs139860767		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:140281716C>T	uc003etn.2	+	14	2466	c.2276C>T	c.(2275-2277)CCG>CTG	p.P759L		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	759	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						AACTGGCGTCCGGCTTCCCTT	0.567		NA								HNSCC(16;0.037)			12	55					0	0	0	0
ZIC4	84107	broad.mit.edu	37	3	147113999	147113999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:147113999G>A	uc003ewd.1	-	3	601	c.328C>T	c.(328-330)CCC>TCC	p.P110S	ZIC4_uc003ewc.1_Missense_Mutation_p.P40S|ZIC4_uc011bno.1_Missense_Mutation_p.P160S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	110						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGACCGTGGGGCGCAGCGAGG	0.706		NA											9	52					0	0	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512409	167512409	+	Silent	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:167512409G>T	uc003ffa.3	+	5	876	c.678G>T	c.(676-678)GGG>GGT	p.G226G	SERPINI1_uc003ffb.3_Silent_p.G226G	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	226					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						TCTTTTTAGGGGAATTTAGTG	0.299		NA											17	30					2.35e-11	3.07e-11	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	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)			10	67					0	0	0	0
WDR19	57728	broad.mit.edu	37	4	39233472	39233472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:39233472G>T	uc003gtv.2	+	18	2192	c.2038G>T	c.(2038-2040)GAG>TAG	p.E680*	WDR19_uc011byi.1_Nonsense_Mutation_p.E520*|WDR19_uc003gtw.1_Nonsense_Mutation_p.E277*	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	680					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCCTGGAATGAGTTGGCCAG	0.433		NA											30	35					2.61e-14	3.47e-14	1	0
ANKRD17	26057	broad.mit.edu	37	4	73956816	73956816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:73956816C>G	uc003hgp.2	-	29	6646	c.6529G>C	c.(6529-6531)GCT>CCT	p.A2177P	ANKRD17_uc003hgo.2_Missense_Mutation_p.A2064P|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1926P|ANKRD17_uc003hgr.2_Missense_Mutation_p.A2176P	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2177					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTCTAATAGCAGGGGTTTCC	0.507		NA											35	132					0	0	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651737	128651737	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:128651737C>T	uc003ifl.2	+	1	183	c.37C>T	c.(37-39)CGG>TGG	p.R13W		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	13					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						GGCAGAAAAGCGGCTGTTTGA	0.567		NA											11	64					0	0	0	0
ZNF827	152485	broad.mit.edu	37	4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:146813423C>T	uc003ikn.2	-	3	1286	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H	ZNF827_uc003ikm.2_Missense_Mutation_p.R413H|ZNF827_uc010iox.2_Missense_Mutation_p.R63H	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	413	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512		NA											25	30					0	0	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545966	148545966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:148545966G>C	uc003ila.3	+	4	872	c.303G>C	c.(301-303)TTG>TTC	p.L101F		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	101	Helical; (Potential).					integral to membrane					0						GGATAGCTTTGAAATATCCCG	0.333		NA											15	30					0	0	0	0
FHDC1	85462	broad.mit.edu	37	4	153896099	153896099	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:153896099G>C	uc003inf.2	+	11	1731	c.1656G>C	c.(1654-1656)CTG>CTC	p.L552L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	552					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GGGAGCTGCTGACCTTCTTGG	0.716		NA											3	29					0	0	0	0
EXOC3	11336	broad.mit.edu	37	5	453741	453741	+	Silent	SNP	C	C	T	rs3822755	by1000genomes	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:453741C>T	uc003jba.2	+	4	749	c.621C>T	c.(619-621)ACC>ACT	p.T207T		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	218					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)			GTGACCCCACCTTGCTGGTCT	0.547		NA											38	89					0	0	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461339	5461339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:5461339C>T	uc003jdm.3	+	13	2114	c.1892C>T	c.(1891-1893)TCT>TTT	p.S631F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	631										ovary(1)|central_nervous_system(1)	2						ACCAGTTTTTCTTCCTCTTCT	0.413		NA											17	96					0	0	0	0
PRLR	5618	broad.mit.edu	37	5	35070274	35070274	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:35070274C>T	uc003jjm.2	-	7	1167	c.637G>A	c.(637-639)GGA>AGA	p.G213R	PRLR_uc003jjg.1_Missense_Mutation_p.G213R|PRLR_uc003jjh.1_Missense_Mutation_p.G213R|PRLR_uc003jji.1_Missense_Mutation_p.G142R|PRLR_uc003jjj.1_Missense_Mutation_p.G213R|PRLR_uc003jjk.1_Missense_Mutation_p.G142R|PRLR_uc003jjl.3_Missense_Mutation_p.G112R|PRLR_uc010iuw.1_Missense_Mutation_p.G142R	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	213	Fibronectin type-III 2.|Extracellular (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)	CTCCAGTATCCATGGTCTGGT	0.448		NA											14	55					0	0	0	0
CCL28	56477	broad.mit.edu	37	5	43382119	43382119	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:43382119G>T	uc003jnu.2	-	3	297	c.227C>A	c.(226-228)CCG>CAG	p.P76Q	CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.P29Q	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28 precursor	76					chemotaxis|immune response	extracellular space	chemokine activity			ovary(1)|kidney(1)	2						ATGGTTGTGCGGGCTGACACA	0.403		NA											4	104					0.000602214	0.000727394	1	0
ISL1	3670	broad.mit.edu	37	5	50685739	50685739	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:50685739C>G	uc003jor.2	+	4	1286	c.738C>G	c.(736-738)CTC>CTG	p.L246L		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	246	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGAAGCAACTCCAGCAGCAGC	0.582		NA											6	22					0	0	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813510	101813510	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:101813510G>C	uc003knn.2	-	3	844	c.672C>G	c.(670-672)TTC>TTG	p.F224L	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.F224L|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	224	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATTTTGATTGGAATGATATAC	0.353		NA											21	76					0	0	0	0
SRP19	6728	broad.mit.edu	37	5	112227862	112227862	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:112227862A>T	uc011cvv.1	+	4	856	c.601A>T	c.(601-603)AAT>TAT	p.N201Y	SRP19_uc011cvu.1_Missense_Mutation_p.N186Y|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GGATCGAGCTAATTGTCCCTT	0.413		NA											24	68					0	0	0	0
PHF15	23338	broad.mit.edu	37	5	133895524	133895524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:133895524C>T	uc003kzo.1	+	5	495	c.316C>T	c.(316-318)CTC>TTC	p.L106F	PHF15_uc011cxt.1_Missense_Mutation_p.L106F|PHF15_uc003kzk.2_Missense_Mutation_p.L122F|PHF15_uc003kzl.2_Missense_Mutation_p.L106F|PHF15_uc003kzm.2_Missense_Mutation_p.L106F|PHF15_uc003kzn.2_Missense_Mutation_p.L106F	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	106					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTAGGATCCTCCCACCACT	0.632		NA											10	23					0	0	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167279	140167279	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:140167279C>T	uc003lhb.2	+	1	1404	c.1404C>T	c.(1402-1404)AAC>AAT	p.N468N	PCDHA1_uc003lha.2_Silent_p.N468N|PCDHA1_uc003lgz.2_Silent_p.N468N	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	468	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAACCCGCCGGGCT	0.667		NA											51	51					0	0	0	0
PCDH1	5097	broad.mit.edu	37	5	141244696	141244696	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:141244696C>G	uc003llq.2	-	3	1317	c.1200G>C	c.(1198-1200)GGG>GGC	p.G400G	PCDH1_uc003llp.2_Silent_p.G400G|PCDH1_uc011dbf.1_Silent_p.G378G	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	400	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTTAGCCATCCCATCTTGAT	0.567		NA											35	91					0	0	0	0
FLT4	2324	broad.mit.edu	37	5	180038443	180038443	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:180038443G>C	uc003mma.3	-	27	3653	c.3574C>G	c.(3574-3576)CAG>GAG	p.Q1192E	FLT4_uc003mlz.3_Missense_Mutation_p.Q1192E	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1192	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGAGCTCTGAGAGCTGCGC	0.622		NA							Congenital_Hereditary_Lymphedema				5	78					0	0	0	0
FAM136B	387071	broad.mit.edu	37	6	3045944	3045944	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:3045944T>C	uc011dhr.1	+	1	327	c.327T>C	c.(325-327)GGT>GGC	p.G109G		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGCTGGACGGTTGTGTGACCA	0.483		NA											8	81					0	0	0	0
NEU1	4758	broad.mit.edu	37	6	31828383	31828383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:31828383G>A	uc003nxq.3	-	4	787	c.631C>T	c.(631-633)CGG>TGG	p.R211W	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.R42W|NEU1_uc003nxs.3_Missense_Mutation_p.R211W	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	211						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	CGGCCCTTCCGTGGCTCCCGC	0.607		NA											21	79					0	0	0	0
FTSJD2	23070	broad.mit.edu	37	6	37429756	37429756	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:37429756C>T	uc003ons.2	+	12	1456	c.1203C>T	c.(1201-1203)TTC>TTT	p.F401F	FTSJD2_uc010jwu.2_Silent_p.F345F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	401					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GAGGCCACTTCATCTGTAAAA	0.438		NA											36	152					0	0	0	0
NFYA	4800	broad.mit.edu	37	6	41065110	41065110	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:41065110C>T	uc003opo.2	+	10	1183	c.1005C>T	c.(1003-1005)GCC>GCT	p.A335A	NFYA_uc003opp.2_Silent_p.A306A|NFYA_uc003opq.2_Silent_p.A306A	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	335					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAACCAAGCCGATGAAGAAG	0.453		NA											15	56					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:100896434C>T	uc003pqj.3	-	6	871	c.664G>A	c.(664-666)GTC>ATC	p.V222I	SIM1_uc010kcu.2_Missense_Mutation_p.V222I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	222	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602		NA											8	7					0	0	0	0
HACE1	57531	broad.mit.edu	37	6	105232953	105232953	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:105232953G>C	uc003pqu.1	-	12	1593	c.1316C>G	c.(1315-1317)GCA>GGA	p.A439G	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A439G|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.A92G	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	439					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGACAATCTGCACTGGCTTC	0.478		NA											8	37					0	0	0	0
GPR126	57211	broad.mit.edu	37	6	142688950	142688950	+	Silent	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:142688950A>G	uc010khc.2	+	3	759	c.348A>G	c.(346-348)AAA>AAG	p.K116K	GPR126_uc010khd.2_Silent_p.K116K|GPR126_uc010khe.2_Silent_p.K116K|GPR126_uc010khf.2_Silent_p.K116K|GPR126_uc003qix.2_Silent_p.K116K	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	116	CUB.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAACTGCCAAAGGCCTATCAT	0.403		NA											3	62					0	0	0	0
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:160999635C>A	uc003qtl.2	-	28	4511	c.4391G>T	c.(4390-4392)CGA>CTA	p.R1464L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3972	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527		NA											14	68					3.27e-08	4.19e-08	1	0
DGKB	1607	broad.mit.edu	37	7	14188824	14188824	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:14188824C>G	uc003ssz.2	-	25	2534	c.2347G>C	c.(2347-2349)GGC>CGC	p.G783R	DGKB_uc011jxt.1_Missense_Mutation_p.G764R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	783					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GGAGGCGGGCCCATCAGCATT	0.338		NA											10	101					0	0	0	0
AQP1	358	broad.mit.edu	37	7	30951587	30951587	+	Silent	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:30951587G>T	uc003tbv.1	+	1	120	c.63G>T	c.(61-63)ACG>ACT	p.T21T	AQP1_uc011kac.1_Intron	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	21	Helical; Name=Helix 1.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	TCCTGGCCACGACCCTCTTTG	0.622		NA											16	37					3.46e-05	4.27e-05	1	0
PKD1L1	168507	broad.mit.edu	37	7	47915768	47915768	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:47915768G>A	uc003tny.1	-	23	3711	c.3711C>T	c.(3709-3711)CAC>CAT	p.H1237H		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1237	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTACAAAGTGTGTTTGGAGG	0.418		NA											7	36					0	0	0	0
CCDC146	57639	broad.mit.edu	37	7	76891594	76891594	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:76891594T>C	uc003uga.2	+	9	1270	c.1143T>C	c.(1141-1143)ACT>ACC	p.T381T	CCDC146_uc010ldp.2_Silent_p.T127T	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	381										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTAGGCAAACTCAAGCACTGC	0.378		NA											11	51					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:106508473C>T	uc003vdv.3	+	2	552	c.467C>T	c.(466-468)GCG>GTG	p.A156V	PIK3CG_uc003vdu.2_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	156					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CAGCTCACGGCGCTGATTGGC	0.682		NA											4	25					0	0	0	0
KCND2	3751	broad.mit.edu	37	7	119914945	119914945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:119914945C>G	uc003vjj.1	+	1	1224	c.259C>G	c.(259-261)CGT>GGT	p.R87G		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	87	Cytoplasmic (Potential).|Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTTCTTTGACCGTGACCCAGA	0.527		NA											39	119					0	0	0	0
NUP205	23165	broad.mit.edu	37	7	135272382	135272382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:135272382G>C	uc003vsw.2	+	9	1309	c.1278G>C	c.(1276-1278)CAG>CAC	p.Q426H	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	426					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TGAGTATGCAGATGGGTAATG	0.373		NA											6	45					0	0	0	0
STC1	6781	broad.mit.edu	37	8	23702400	23702400	+	Silent	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:23702400A>C	uc003xdw.1	-	4	911	c.627T>G	c.(625-627)GCT>GCG	p.A209A		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	209					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTTGAAGTCAGCTCGTGGGT	0.552		NA											19	91					0	0	0	0
MYST3	7994	broad.mit.edu	37	8	41791310	41791310	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:41791310C>T	uc010lxb.2	-	18	4972	c.4428G>A	c.(4426-4428)GCG>GCA	p.A1476A	MYST3_uc010lxc.2_Silent_p.A1476A|MYST3_uc003xon.3_Silent_p.A1476A	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1476					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TATGTTCTGACGCATGACAGT	0.562		NA											30	79					0	0	0	0
SULF1	23213	broad.mit.edu	37	8	70515533	70515533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:70515533G>A	uc010lza.1	+	11	1885	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N	SULF1_uc003xyd.2_Missense_Mutation_p.D390N|SULF1_uc003xye.2_Missense_Mutation_p.D390N|SULF1_uc003xyf.2_Missense_Mutation_p.D390N|SULF1_uc003xyg.2_Missense_Mutation_p.D390N|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	390					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552		NA											7	124					0	0	0	0
FABP12	646486	broad.mit.edu	37	8	82441795	82441795	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82441795T>C	uc011lfp.1	-	2	124	c.124A>G	c.(124-126)ACC>GCC	p.T42A	FABP12_uc003ycg.3_RNA	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	42							lipid binding|transporter activity				0						GTACTGATGGTCACAGTGGGT	0.383		NA											17	87					0	0	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606646	82606646	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82606646T>G	uc011lfs.1	-	1	562	c.562A>C	c.(562-564)ATG>CTG	p.M188L		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	188	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						CAAAATGGCATCAGAAAAAAC	0.463		NA											20	102					0	0	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048078	86048078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:86048078C>G	uc003ycw.2	+	14	2363	c.2209C>G	c.(2209-2211)CAA>GAA	p.Q737E	LRRCC1_uc010maa.1_Missense_Mutation_p.Q438E|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q644E|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q717E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	737					cell division|mitosis	centriole|nucleus					0						GAAGAGTATTCAAATAGAACT	0.313		NA											6	76					0	0	0	0
ZFAT	57623	broad.mit.edu	37	8	135602519	135602519	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:135602519T>A	uc003yup.2	-	8	2730	c.2555A>T	c.(2554-2556)AAC>ATC	p.N852I	ZFAT_uc003yun.2_Missense_Mutation_p.N840I|ZFAT_uc003yuo.2_Missense_Mutation_p.N840I|ZFAT_uc010meh.2_Missense_Mutation_p.N840I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.N840I|ZFAT_uc010mej.2_Missense_Mutation_p.N790I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	852	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCAGGATGGTTGGTCTTGAT	0.308		NA											17	102					0	0	0	0
CNTLN	54875	broad.mit.edu	37	9	17388167	17388167	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:17388167C>G	uc003zmz.2	+	14	2021	c.1995C>G	c.(1993-1995)CTC>CTG	p.L665L	CNTLN_uc003zmy.2_Silent_p.L665L|CNTLN_uc010mio.2_Silent_p.L344L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	665						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGAACAGCTCTTTAGATCTG	0.358		NA											14	101					0	0	0	0
CCDC107	203260	broad.mit.edu	37	9	35661158	35661158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:35661158C>T	uc011lox.1	+	5	892	c.826C>T	c.(826-828)CGA>TGA	p.R276*	CCDC107_uc011loy.1_Nonsense_Mutation_p.R249*|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107 precursor	276						integral to membrane					0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAAGGTCGACTAAAACA	0.552		NA											11	51					0	0	0	0
RNF20	56254	broad.mit.edu	37	9	104319876	104319876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104319876C>T	uc004bbn.2	+	16	2470	c.2380C>T	c.(2380-2382)CAG>TAG	p.Q794*		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	794	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTGAAGACTCAGGTAATTAG	0.333		NA											7	30					0	0	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335610	104335610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104335610G>T	uc004bbp.1	-	9	3795	c.3194C>A	c.(3193-3195)GCA>GAA	p.A1065E	GRIN3A_uc004bbo.1_Missense_Mutation_p.A140E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1065	Cytoplasmic (Potential).|Potential.				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGGGAGTCTGCTTTCCCATT	0.567		NA											40	69					5.72e-15	7.64e-15	1	0
RAD23B	5887	broad.mit.edu	37	9	110073972	110073972	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:110073972T>C	uc004bde.2	+	5	874	c.507T>C	c.(505-507)GGT>GGC	p.G169G	RAD23B_uc011lwa.1_Silent_p.G169G|RAD23B_uc011lwb.1_Silent_p.G148G	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	169					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						GTACATCGGGTGATTCTTCTC	0.289		NA						Direct_reversal_of_damage|NER					18	18					0	0	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899838	112899838	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:112899838C>A	uc004bei.2	+	9	2902	c.2710C>A	c.(2710-2712)CGG>AGG	p.R904R	PALM2-AKAP2_uc004bek.3_Silent_p.R672R|PALM2-AKAP2_uc004bej.3_Silent_p.R672R|PALM2-AKAP2_uc004bel.1_Silent_p.R482R|AKAP2_uc011lwi.1_Silent_p.R530R|AKAP2_uc004bem.2_Silent_p.R530R|PALM2-AKAP2_uc010mtw.1_Silent_p.R490R|AKAP2_uc011lwj.1_Silent_p.R441R|PALM2-AKAP2_uc004ben.2_Silent_p.R441R	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	441							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TACGAGCGCCCGGGCTGTCCT	0.532		NA											43	79					6.48e-29	8.79e-29	1	0
TNC	3371	broad.mit.edu	37	9	117783505	117783505	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:117783505G>C	uc004bjj.3	-	28	6899	c.6537C>G	c.(6535-6537)ATC>ATG	p.I2179M	TNC_uc010mvf.2_Missense_Mutation_p.I1906M	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2179	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGCAAACTGGATTGAGTGTT	0.423		NA											15	80					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418373	139418373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:139418373G>T	uc004chz.2	-	3	199	c.199C>A	c.(199-201)CCC>ACC	p.P67T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	67	Extracellular (Potential).|EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTGCAGGGGGTGCTGAGG	0.672		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			5	7					0.000602214	0.000727394	1	0
RET	5979	broad.mit.edu	37	10	43609084	43609086	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:43609084_43609086delGAG	uc001jal.2	+	10	2030_2032	c.1840_1842delGAG	c.(1840-1842)GAGdel	p.E616del	RET_uc001jak.1_In_Frame_Del_p.E616del|RET_uc010qez.1_In_Frame_Del_p.E362del	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	616	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.F612_C620del(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGCTTCCCTGAGGAGGAGAAGT	0.64		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				10	21	---	---	---	---	NA	NA	NA	NA
EXOC6	54536	broad.mit.edu	37	10	94708041	94708043	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:94708041_94708043delGAA	uc001kig.2	+	14	1387_1389	c.1321_1323delGAA	c.(1321-1323)GAAdel	p.E442del	EXOC6_uc010qnr.1_In_Frame_Del_p.E458del|EXOC6_uc001kie.2_In_Frame_Del_p.E437del|EXOC6_uc009xub.2_In_Frame_Del_p.E442del|EXOC6_uc009xuc.2_In_Frame_Del_p.E339del|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_In_Frame_Del_p.E16del	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	442					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				GGACATTTTTGAAGAAGATAATT	0.325		NA											7	41	---	---	---	---	NA	NA	NA	NA
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45219612delA	uc002ild.3	-	11	1488	c.1361delT	c.(1360-1362)CTAfs	p.L454fs	CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TGCTTTTTGTAGATTAAAGGC	0.308		NA											7	32	---	---	---	---	NA	NA	NA	NA