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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
ATAD3B	83858	broad.mit.edu	37	1	1412652	1412652	+	Splice_Site	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:1412652A>T	uc001afv.2	+	2	307	c.206_splice	c.e2-2	p.R69_splice	ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3								ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGCGCCCGCAGGTTACGCCA	0.453			NA											10	9					0	0	0.010729	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811565	9811565	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:9811565G>A	uc001aqh.2	-	5	1374	c.615C>T	c.(613-615)ATC>ATT	p.I205I	CLSTN1_uc001aqi.2_Silent_p.I195I|CLSTN1_uc010oag.1_Silent_p.I205I	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	205	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGTCTGGAGTGATGATTTCGT	0.532			NA											4	56					0	0	0.009096	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816582	22816582	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:22816582C>G	uc001bft.2	+	3	652	c.141C>G	c.(139-141)CTC>CTG	p.L47L	ZBTB40_uc001bfu.2_Silent_p.L47L|ZBTB40_uc009vqi.1_Silent_p.L47L	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	47	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTGCCAGCCTCCTGTTCAAAA	0.512			NA											3	77					0	0	0.004672	0	0
ZNF436	80818	broad.mit.edu	37	1	23693616	23693616	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:23693616C>T	uc001bgt.2	-	2	460	c.79G>A	c.(79-81)GAA>AAA	p.E27K	ZNF436_uc001bgu.2_Missense_Mutation_p.E27K|C1orf213_uc001bgv.2_5'Flank|C1orf213_uc001bgw.2_5'Flank	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGTCTCCATTCTTCCCGGGTG	0.443			NA											16	69					0	0	0.00499	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687484	27687484	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:27687484G>C	uc001bny.1	-	14	2097	c.1848C>G	c.(1846-1848)ATC>ATG	p.I616M	MAP3K6_uc009vsw.1_Missense_Mutation_p.I608M|MAP3K6_uc001bnz.1_Missense_Mutation_p.I139M	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	616					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGGCCTGGATCAGGCCGC	0.692			NA											10	11					0	0	0.008291	0	0
MECR	51102	broad.mit.edu	37	1	29528493	29528493	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:29528493C>G	uc001brq.1	-	6	754	c.718G>C	c.(718-720)GAG>CAG	p.E240Q	MECR_uc001brp.1_Missense_Mutation_p.E164Q|MECR_uc001brr.1_Missense_Mutation_p.E164Q|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.E164Q|MECR_uc010ofz.1_Missense_Mutation_p.E240Q	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	240					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CTTAGCTCCTCTTCTGTGATG	0.498			NA											6	331					0	0	0.001168	0	0
MKNK1	8569	broad.mit.edu	37	1	47028476	47028476	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:47028476C>A	uc001cqb.2	-	11	1052	c.808G>T	c.(808-810)GTC>TTC	p.V270F	MKNK1_uc010omd.1_Missense_Mutation_p.V134F|MKNK1_uc001cqc.2_Missense_Mutation_p.V229F|MKNK1_uc009vyi.2_Missense_Mutation_p.V229F|MKNK1_uc010ome.1_Missense_Mutation_p.V134F|MKNK1_uc009vyj.2_Missense_Mutation_p.V174F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	270	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					TCCGTGAAGACCTCCACTACC	0.602			NA											7	17					0.00448238	0.00460689	0.004482	1	0
SGIP1	84251	broad.mit.edu	37	1	67154913	67154913	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:67154913A>T	uc001dcr.2	+	16	1615	c.1398A>T	c.(1396-1398)CCA>CCT	p.P466P	SGIP1_uc010opd.1_Silent_p.P66P|SGIP1_uc001dcs.2_Silent_p.P66P|SGIP1_uc001dct.2_Silent_p.P66P|SGIP1_uc009wat.2_Silent_p.P260P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	466	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CCCGGCCTCCATCCCGGCCAA	0.537			NA											69	223					0	0	0.01441	0	0
LRRC7	57554	broad.mit.edu	37	1	70488908	70488908	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:70488908G>T	uc001dep.2	+	15	1561	c.1531G>T	c.(1531-1533)GAT>TAT	p.D511Y	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	511						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGCCAGGTGTGATCAGCAGAT	0.577			NA											24	49					1.85244e-09	2.12528e-09	0.01892	1	0
PRKACB	5567	broad.mit.edu	37	1	84662323	84662323	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:84662323A>T	uc001djj.2	+	6	708	c.444A>T	c.(442-444)GCA>GCT	p.A148A	PRKACB_uc001djl.2_Silent_p.A195A|PRKACB_uc010ort.1_Silent_p.A155A|PRKACB_uc001djn.2_Silent_p.A152A|PRKACB_uc010oru.1_Silent_p.A136A|PRKACB_uc001djp.2_Silent_p.A154A|PRKACB_uc001djq.2_Silent_p.A118A|PRKACB_uc010orv.1_Silent_p.A135A|PRKACB_uc001dji.2_Silent_p.A148A|PRKACB_uc001djk.2_Silent_p.A195A|PRKACB_uc009wcf.1_Silent_p.A154A	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	148	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GGTTCTATGCAGCTCAGATAG	0.358			NA											15	41					0	0	0.003163	0	0
CELSR2	1952	broad.mit.edu	37	1	109794155	109794155	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:109794155C>G	uc001dxa.3	+	1	1515	c.1454C>G	c.(1453-1455)TCT>TGT	p.S485C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	485	Cadherin 3.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCACTCTCTAATGTCTCT	0.567	NSCLC(158;1285 2011 34800 34852 42084)		NA											5	258					0	0	0.001168	0	0
AHCYL1	10768	broad.mit.edu	37	1	110562203	110562203	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:110562203G>A	uc001dyx.2	+	15	1787	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K	AHCYL1_uc010ovw.1_Missense_Mutation_p.E427K|AHCYL1_uc001dyy.2_Missense_Mutation_p.E427K|AHCYL1_uc010ovx.1_Missense_Mutation_p.E427K	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	474					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TAATGCACCCGAGGGGCGATA	0.408			NA											35	124					0	0	0.007835	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921598	110921598	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:110921598T>C	uc001dzo.1	-	6	1089	c.907A>G	c.(907-909)ATA>GTA	p.I303V	SLC16A4_uc009wfs.1_Missense_Mutation_p.I255V|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.I241V|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.I193V	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	303	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAAGTAAATATGTAGAAGAAA	0.398			NA											17	53					0	0	0.004007	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543767	154543767	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:154543767G>C	uc001ffg.2	+	5	732	c.468G>C	c.(466-468)AAG>AAC	p.K156N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	156	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCGCATGCAAGATTGAAGTAA	0.527			NA											13	132					0	0	0.016723	0	0
SPTA1	6708	broad.mit.edu	37	1	158615379	158615379	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:158615379A>C	uc001fst.1	-	28	4101	c.3902T>G	c.(3901-3903)CTG>CGG	p.L1301R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1301	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCAGTTCTGCAGATCCCTAGA	0.428			NA											26	125					0	0	0.005443	0	0
DDR2	4921	broad.mit.edu	37	1	162729613	162729613	+	Silent	SNP	C	C	T	rs56351141	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:162729613C>T	uc001gcf.2	+	9	1164	c.699C>T	c.(697-699)ACC>ACT	p.T233T	DDR2_uc001gcg.2_Silent_p.T233T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	233	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAATTGACCGATGGTGTGT	0.537	NSCLC(161;314 2006 8283 19651 23192)		NA											4	106					0	0	0.014758	0	0
PBX1	5087	broad.mit.edu	37	1	164769122	164769122	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:164769122G>T	uc001gct.2	+	4	955	c.697G>T	c.(697-699)GCG>TCG	p.A233S	PBX1_uc010pku.1_Missense_Mutation_p.A233S|PBX1_uc010pkv.1_Missense_Mutation_p.A150S|PBX1_uc001gcs.2_Missense_Mutation_p.A233S|PBX1_uc010pkw.1_Missense_Mutation_p.A123S	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	233	Homeobox; TALE-type.				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						ATTTCTGGATGCGCGGTGAGT	0.612			NA	T	TCF3|EWSR1	pre B-ALL|myoepithelioma								12	35					5.16669e-11	6.09298e-11	0.010729	1	0
SLC9A11	284525	broad.mit.edu	37	1	173569349	173569349	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:173569349C>T	uc001giz.2	-	3	558	c.135G>A	c.(133-135)TTG>TTA	p.L45L	SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	45	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AACACATCTTCAAAAGCCcta	0.219			NA											8	32					0	0	0.004482	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174244980	174244981	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:174244980_174244981GG>AA	uc001gjx.2	+	9	1258_1259	c.1063_1064GG>AA	c.(1063-1065)GGA>AAA	p.G355K	RABGAP1L_uc009wwq.1_Missense_Mutation_p.G367K|RABGAP1L_uc001gjw.2_Missense_Mutation_p.G318K|RABGAP1L_uc001gjy.2_Missense_Mutation_p.G23K|RABGAP1L_uc001gjz.2_Missense_Mutation_p.G2K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	355					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GGAATCCATGGGAAAGAGCTAT	0.347			NA											7	100					0	0	0.004672	0	0
ASTN1	460	broad.mit.edu	37	1	177133755	177133755	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:177133755G>A	uc001glc.2	-	1	270	c.58C>T	c.(58-60)CTG>TTG	p.L20L	ASTN1_uc001glb.1_Silent_p.L20L|ASTN1_uc001gld.1_Silent_p.L20L|ASTN1_uc009wwx.1_Silent_p.L20L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	20					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCCGTGGCCAGCACCGCCGCC	0.672			NA											5	19					0	0	0.014758	0	0
C1orf220	400798	broad.mit.edu	37	1	178514863	178514863	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:178514863G>A	uc001glx.1	+	2	606	c.249G>A	c.(247-249)CAG>CAA	p.Q83Q	C1orf49_uc001glv.1_Intron	NM_207467	NP_997350			hypothetical protein LOC400798												0						AGCTTCTGCAGTTGGGAAGAC	0.532			NA											15	67					0	0	0.020292	0	0
CEP350	9857	broad.mit.edu	37	1	180003104	180003104	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:180003104C>G	uc001gnt.2	+	16	4216	c.3833C>G	c.(3832-3834)TCT>TGT	p.S1278C	CEP350_uc009wxl.2_Missense_Mutation_p.S1277C|CEP350_uc001gnu.2_Missense_Mutation_p.S1111C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1278	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4						TCAGAAAGATCTAAGTCGTCA	0.453			NA											5	62					0	0	0.014758	0	0
CACNA1S	779	broad.mit.edu	37	1	201047120	201047120	+	Silent	SNP	G	G	A	rs141808465	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:201047120G>A	uc001gvv.2	-	11	1733	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	502	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACACACCACGAAGCAGTCGA	0.592			NA											15	87					0	0	0.014323	0	0
LPGAT1	9926	broad.mit.edu	37	1	211966499	211966499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:211966499G>C	uc001hiu.2	-	3	1085	c.272C>G	c.(271-273)TCA>TGA	p.S91*	LPGAT1_uc001hiv.2_Nonsense_Mutation_p.S91*	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	91					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TTCATCTTTTGAAACTGCTTT	0.373			NA											5	220					0	0	0.014758	0	0
C1orf150	148823	broad.mit.edu	37	1	247719752	247719752	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:247719752G>T	uc001idf.2	+	2	118	c.73G>T	c.(73-75)GAT>TAT	p.D25Y	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	25											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGAAACCCAGATGAGGAAAG	0.358			NA											7	21					8.12818e-05	8.56207e-05	0.001984	1	0
OR2M5	127059	broad.mit.edu	37	1	248309181	248309181	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:248309181C>A	uc010pze.1	+	1	732	c.732C>A	c.(730-732)CAC>CAA	p.H244Q		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	244	Helical; Name=6; (Potential).		H -> N (found in a renal cell carcinoma sample; somatic mutation).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H244N(1)		ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTTCCTCTCACCTCATGGTGG	0.488			NA											64	197					1.74971e-23	2.26164e-23	0.01441	1	0
DIP2C	22982	broad.mit.edu	37	10	387205	387205	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:387205G>C	uc001ifp.2	-	29	3608	c.3518C>G	c.(3517-3519)TCT>TGT	p.S1173C	DIP2C_uc009xhi.1_Missense_Mutation_p.S559C	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1173						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACTTCTCTAGAGGGGTAAAG	0.488			NA											4	72					0	0	0.009096	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343844	38343844	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:38343844C>G	uc001izh.2	+	5	967	c.789C>G	c.(787-789)TTC>TTG	p.F263L	ZNF33A_uc001izg.2_Missense_Mutation_p.F264L|ZNF33A_uc010qev.1_Missense_Mutation_p.F270L|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CCCTCTTGTTCCATCAGATAT	0.388			NA											16	54					0	0	0.003163	0	0
FRMPD2	143162	broad.mit.edu	37	10	49447710	49447710	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:49447710C>T	uc001jgi.2	-	7	833	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	FRMPD2_uc001jgh.2_Silent_p.Q211Q|FRMPD2_uc001jgj.2_Silent_p.Q220Q	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	242					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CTGGTGAGCTCTGGGTCTCCG	0.433			NA											3	29					0	0	0.009096	0	0
HK1	3098	broad.mit.edu	37	10	71136840	71136840	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:71136840C>T	uc001jpl.3	+	8	1127	c.1026C>T	c.(1024-1026)ATC>ATT	p.I342I	HK1_uc001jpg.3_Silent_p.I330I|HK1_uc001jph.3_Silent_p.I346I|HK1_uc001jpi.3_Silent_p.I346I|HK1_uc001jpj.3_Silent_p.I377I|HK1_uc001jpk.3_Silent_p.I341I|HK1_uc009xqd.2_Silent_p.I220I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	342	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGTCAGCCATCGAAAAGTAGG	0.517			NA											15	69					0	0	0.003163	0	0
UNC5B	219699	broad.mit.edu	37	10	73045160	73045160	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:73045160C>T	uc001jro.2	+	4	971	c.526C>T	c.(526-528)CCG>TCG	p.P176S	UNC5B_uc001jrp.2_Missense_Mutation_p.P176S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	176	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCAGTGCCGCCCGCCGGAGGG	0.657			NA									OREG0020248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0.004672	0	0
IDE	3416	broad.mit.edu	37	10	94297241	94297241	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:94297241G>A	uc001kia.2	-	2	241	c.165C>T	c.(163-165)ACC>ACT	p.T55T		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	55					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGAGACTTGGTAATGTGAT	0.383			NA											17	68					0	0	0.00499	0	0
PDZD7	79955	broad.mit.edu	37	10	102778631	102778631	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:102778631G>A	uc001kso.1	-	8	1487	c.1272C>T	c.(1270-1272)CTC>CTT	p.L424L	PDZD7_uc001ksn.2_Silent_p.L424L	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	424						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGGGTCGGCTGAGGGCCAGCA	0.692			NA									OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	0.004672	0	0
CLRN3	119467	broad.mit.edu	37	10	129676535	129676535	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:129676535C>A	uc001lka.1	-	3	722	c.559G>T	c.(559-561)GTC>TTC	p.V187F	CLRN3_uc001ljz.1_Missense_Mutation_p.V119F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	187	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468			NA											36	74					4.65686e-17	5.91602e-17	0.017118	1	0
FRG2B	441581	broad.mit.edu	37	10	135440196	135440196	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:135440196G>C	uc010qvg.1	-	1	104	c.51C>G	c.(49-51)TGC>TGG	p.C17W		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	17						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCAGTGGAGCACTGGATGG	0.502			NA											12	251					0	0	0.003163	0	0
OR52B4	143496	broad.mit.edu	37	11	4389047	4389047	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:4389047G>T	uc010qye.1	-	1	479	c.479C>A	c.(478-480)CCT>CAT	p.P160H		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATATGATAGGGAAAATTGT	0.368			NA											12	37					3.07112e-06	3.37937e-06	0.010729	1	0
OR52L1	338751	broad.mit.edu	37	11	6008152	6008152	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:6008152C>T	uc001mcd.2	-	1	64	c.9G>A	c.(7-9)TTG>TTA	p.L3L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGAAACCAAAGTCATGA	0.433	Melanoma(121;653 1666 10547 22796 51255)		NA											10	44					0	0	0.010729	0	0
SBF2	81846	broad.mit.edu	37	11	9850975	9850975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:9850975C>A	uc001mib.2	-	28	3859	c.3721G>T	c.(3721-3723)GCT>TCT	p.A1241S		NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1241	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACAGAAACAGCATTCAGTAAG	0.373			NA											25	85					9.57634e-11	1.12039e-10	0.01892	1	0
INSC	387755	broad.mit.edu	37	11	15197396	15197396	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:15197396G>A	uc001mly.2	+	3	353	c.307G>A	c.(307-309)GAG>AAG	p.E103K	INSC_uc001mlz.2_Missense_Mutation_p.E56K|INSC_uc001mma.2_Missense_Mutation_p.E56K|INSC_uc010rcs.1_Missense_Mutation_p.E56K|INSC_uc001mmb.2_Missense_Mutation_p.E56K|INSC_uc001mmc.2_Missense_Mutation_p.E56K	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	103					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CAGCCTGGAAGAGGATGCACA	0.612			NA											4	51					0	0	0.014758	0	0
NELL1	4745	broad.mit.edu	37	11	20949951	20949951	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:20949951C>A	uc001mqe.2	+	9	1076	c.923C>A	c.(922-924)TCC>TAC	p.S308Y	NELL1_uc001mqf.2_Missense_Mutation_p.S308Y|NELL1_uc009yid.2_Missense_Mutation_p.S336Y|NELL1_uc010rdo.1_Missense_Mutation_p.S251Y|NELL1_uc010rdp.1_Missense_Mutation_p.S68Y	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	308	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CGAAGGATGTCCTGTCCCCCT	0.522			NA											18	64					6.94344e-10	7.99712e-10	0.006122	1	0
FNBP4	23360	broad.mit.edu	37	11	47788812	47788812	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:47788812C>T	uc009ylv.2	-	1	182	c.29G>A	c.(28-30)GGC>GAC	p.G10D	FNBP4_uc001ngj.2_5'Flank|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	10										ovary(1)	1						GGGCCTACGGCCGGGTACCGC	0.751			NA											5	6					0	0	0.014758	0	0
OR4C3	256144	broad.mit.edu	37	11	48347185	48347185	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:48347185C>A	uc010rhv.1	+	1	693	c.693C>A	c.(691-693)ATC>ATA	p.I231I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTGGTTTAATCTGCCTGTTGA	0.502			NA											15	67					7.93312e-07	8.82783e-07	0.020292	1	0
TRIM48	79097	broad.mit.edu	37	11	55033101	55033101	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55033101C>A	uc010rid.1	+	3	571	c.485C>A	c.(484-486)TCT>TAT	p.S162Y		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	146						intracellular	zinc ion binding				0						AAAATGCAGTCTTTATGGGAA	0.423			NA											3	27					6.4e-05	6.76571e-05	0.004672	1	0
OR4S2	219431	broad.mit.edu	37	11	55419086	55419086	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55419086C>A	uc001nhs.1	+	1	707	c.707C>A	c.(706-708)TCC>TAC	p.S236Y		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AAAGCCCTCTCCACCTGTGGC	0.493			NA											34	93					2.80507e-11	3.33454e-11	0.012213	1	0
OR5F1	338674	broad.mit.edu	37	11	55761773	55761773	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55761773G>T	uc010riv.1	-	1	329	c.329C>A	c.(328-330)ACC>AAC	p.T110N		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GATGCATTCGGTTGTCGCCAG	0.468			NA											39	67					2.37825e-27	3.11487e-27	0.010771	1	0
OR8K1	390157	broad.mit.edu	37	11	56113845	56113845	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:56113845G>C	uc010rjg.1	+	1	331	c.331G>C	c.(331-333)GAG>CAG	p.E111Q		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AGCATTCTTTGAGATTTTCAT	0.408			NA								HNSCC(65;0.19)			15	165					0	0	0.00499	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798701	57798701	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:57798701G>T	uc010rjz.1	+	1	277	c.277G>T	c.(277-279)GGC>TGC	p.G93C	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				GGTGGATGGTGGCAAGAATAT	0.478			NA											49	118					1.65492e-34	2.20656e-34	0.01441	1	0
ACTN3	89	broad.mit.edu	37	11	66322659	66322659	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:66322659G>A	uc001oio.1	+	6	634	c.616G>A	c.(616-618)GAC>AAC	p.D206N	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	206	Actin-binding.|CH 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						TGACCTCATCGACTACGCCAA	0.622			NA											21	44					0	0	0.012319	0	0
ODZ4	26011	broad.mit.edu	37	11	78381203	78381203	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:78381203G>A	uc001ozl.3	-	32	6650	c.6187C>T	c.(6187-6189)CTG>TTG	p.L2063L	ODZ4_uc001ozk.3_Silent_p.L288L|ODZ4_uc009yvb.1_Silent_p.L647L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2063	YD 12.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGGTCAATCAGGGGCCCAATC	0.547			NA											10	32					0	0	0.006214	0	0
BCO2	83875	broad.mit.edu	37	11	112085561	112085561	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:112085561A>G	uc001pnf.2	+	10	1526	c.1409A>G	c.(1408-1410)TAT>TGT	p.Y470C	BCO2_uc001pne.1_Missense_Mutation_p.Y297C|BCO2_uc001png.2_Missense_Mutation_p.Y397C|BCO2_uc001pnh.2_Missense_Mutation_p.Y436C|BCO2_uc010rwt.1_Missense_Mutation_p.Y365C|BCO2_uc009yyn.2_Missense_Mutation_p.Y436C|BCO2_uc001pni.2_Missense_Mutation_p.Y436C	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	470					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAGATCTACTATGATCGATTC	0.393	GBM(177;1916 2099 21049 29541 39946)		NA											30	64					0	0	0.008361	0	0
PCSK7	9159	broad.mit.edu	37	11	117094859	117094859	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:117094859C>G	uc001pqr.2	-	8	1190	c.989G>C	c.(988-990)GGA>GCA	p.G330A		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	330	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGTTGGCCTCCGTTGCCACT	0.537			NA	T	IGH@	MLCLS								23	64					0	0	0.014323	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516195	118516195	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:118516195G>T	uc001ptr.1	+	17	3596	c.3243G>T	c.(3241-3243)TCG>TCT	p.S1081S	PHLDB1_uc001pts.2_Silent_p.S1081S|PHLDB1_uc001ptt.2_Silent_p.S1034S|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.S896S|PHLDB1_uc001ptw.1_Silent_p.S436S|PHLDB1_uc009zai.1_Silent_p.S117S|PHLDB1_uc001ptx.1_Silent_p.S117S|PHLDB1_uc010ryi.1_Silent_p.S224S	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1081											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGGGCCCCTCGGGCTTCCCCC	0.672			NA											23	98					2.89027e-11	3.42208e-11	0.014323	1	0
CACNA1C	775	broad.mit.edu	37	12	2705059	2705059	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:2705059C>A	uc009zdu.1	+	20	2996	c.2683C>A	c.(2683-2685)CGC>AGC	p.R895S	CACNA1C_uc009zdv.1_Missense_Mutation_p.R892S|CACNA1C_uc001qkb.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkc.2_Missense_Mutation_p.R895S|CACNA1C_uc001qke.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkf.2_Missense_Mutation_p.R895S|CACNA1C_uc001qjz.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkd.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkg.2_Missense_Mutation_p.R895S|CACNA1C_uc009zdw.1_Missense_Mutation_p.R895S|CACNA1C_uc001qkh.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkl.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkn.2_Missense_Mutation_p.R895S|CACNA1C_uc001qko.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkp.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkr.2_Missense_Mutation_p.R895S|CACNA1C_uc001qku.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkq.2_Missense_Mutation_p.R895S|CACNA1C_uc001qks.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkt.2_Missense_Mutation_p.R895S|CACNA1C_uc001qka.1_Missense_Mutation_p.R430S|CACNA1C_uc001qki.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkj.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkk.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkm.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkw.2_Missense_Mutation_p.R184S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	895	III.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGTGCCACCGCATTGTCAA	0.577			NA											27	69					3.28513e-13	4.01817e-13	0.021523	1	0
CHD4	1108	broad.mit.edu	37	12	6697099	6697099	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:6697099T>C	uc001qpo.2	-	24	3646	c.3482A>G	c.(3481-3483)CAC>CGC	p.H1161R	CHD4_uc001qpn.2_Missense_Mutation_p.H1154R|CHD4_uc001qpp.2_Missense_Mutation_p.H1158R	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1161	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCAATCCGGTGAGCTCTGCT	0.448	Colon(32;586 792 4568 16848 45314)		NA											22	55					0	0	0.014323	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769541	13769541	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:13769541G>T	uc001rbt.2	-	5	1355	c.1176C>A	c.(1174-1176)CCC>CCA	p.P392P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	392	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACACATTCGGGGCCACACAT	0.502			NA											24	88					2.39556e-15	2.99193e-15	0.016522	1	0
ATF7IP	55729	broad.mit.edu	37	12	14577906	14577906	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:14577906G>A	uc001rbw.2	+	2	1215	c.1057G>A	c.(1057-1059)GAA>AAA	p.E353K	ATF7IP_uc010shs.1_Missense_Mutation_p.E353K|ATF7IP_uc001rbu.2_Missense_Mutation_p.E353K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E353K|ATF7IP_uc001rbx.2_Missense_Mutation_p.E353K|ATF7IP_uc010sht.1_Missense_Mutation_p.E353K|ATF7IP_uc001rby.3_Missense_Mutation_p.E353K|ATF7IP_uc001rbz.1_Missense_Mutation_p.E353K|ATF7IP_uc001rca.2_Missense_Mutation_p.E353K|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	353	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AGAAACTCTAGAAACAGATGA	0.333			NA											19	75					0	0	0.007413	0	0
Unknown	0	broad.mit.edu	37	12	31286090	31286090	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:31286090C>G	uc010sjy.1	-	20	2695	c.2695G>C	c.(2695-2697)GAA>CAA	p.E899Q						RecName: Full=Ovostatin homolog 1; Flags: Precursor;												NA						CTTTCCTTTTCAATACCTTCA	0.378			NA											10	40					0	0	0.00499	0	0
DDX23	9416	broad.mit.edu	37	12	49233875	49233875	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:49233875C>A	uc001rsm.2	-	4	426	c.335G>T	c.(334-336)CGA>CTA	p.R112L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	112	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						GTCTTTTCCTCGACCAGGAGA	0.438			NA											37	105					1.26612e-14	1.56154e-14	0.015359	1	0
MLL2	8085	broad.mit.edu	37	12	49433570	49433571	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:49433570_49433571GA>TT	uc001rta.3	-	31	7982_7983	c.7982_7983TC>AA	c.(7981-7983)CTC>CAA	p.L2661Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2661					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGTACCTGGGAGTTCAGCTGT	0.579			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			7	32					0	0	0.004672	0	0
KRT1	3848	broad.mit.edu	37	12	53073746	53073746	+	Silent	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:53073746A>G	uc001sau.1	-	1	446	c.387T>C	c.(385-387)TTT>TTC	p.F129F	KRT1_uc001sav.1_Silent_p.F129F	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	129	Head.|Gly/Phe/Ser-rich.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						cacctccaccaaaaccaccac	0.189			NA											8	24					0	0	0.00308	0	0
PDE1B	5153	broad.mit.edu	37	12	54963037	54963037	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:54963037C>T	uc001sgd.1	+	4	463	c.297C>T	c.(295-297)GAC>GAT	p.D99D	PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Silent_p.D58D|PDE1B_uc001sgf.2_Intron|PDE1B_uc001sge.2_Silent_p.D79D|PDE1B_uc009znq.2_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	99					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTGCGGGACTGGCTGGCCT	0.642			NA											15	60					0	0	0.003163	0	0
MIP	4284	broad.mit.edu	37	12	56848280	56848280	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:56848280G>T	uc001slh.2	-	1	150	c.118C>A	c.(118-120)CAT>AAT	p.H40N		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	40	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						TGCAGAACATGCAGGGGTCCA	0.572			NA											29	75					1.77063e-15	2.22079e-15	0.005443	1	0
LRP1	4035	broad.mit.edu	37	12	57569388	57569388	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:57569388C>G	uc001snd.2	+	23	4159	c.3693C>G	c.(3691-3693)CTC>CTG	p.L1231L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1231	Extracellular (Potential).|EGF-like 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAAGCATCTCAAATGCAGCC	0.607			NA									OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	80					0	0	0.001984	0	0
CAND1	55832	broad.mit.edu	37	12	67703981	67703981	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:67703981G>C	uc001stn.2	+	13	3682	c.3245G>C	c.(3244-3246)AGA>ACA	p.R1082T	CAND1_uc001sto.2_Missense_Mutation_p.R592T	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	1082	HEAT 25.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGGATATTAGAAAGGCAGCA	0.348			NA											4	100					0	0	0.014758	0	0
CCT2	10576	broad.mit.edu	37	12	69987387	69987387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:69987387G>A	uc001svb.1	+	10	1070	c.976G>A	c.(976-978)GTC>ATC	p.V326I	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.V326I|CCT2_uc010stl.1_Missense_Mutation_p.V279I	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	326					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCTAGCTCTTGTCACAGGTAT	0.373			NA											8	32					0	0	0.004482	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373772	86373772	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:86373772T>A	uc001tai.3	-	8	1982	c.732A>T	c.(730-732)CTA>CTT	p.L244L	MGAT4C_uc001tal.3_Silent_p.L244L|MGAT4C_uc001taj.3_Silent_p.L244L|MGAT4C_uc001tak.3_Silent_p.L244L|MGAT4C_uc010sum.1_Silent_p.L268L|MGAT4C_uc001tah.3_Silent_p.L244L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	244	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AAGTTCCTTCTAGGGATGCAA	0.353			NA											13	30					0	0	0.016723	0	0
LUM	4060	broad.mit.edu	37	12	91502497	91502497	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:91502497T>A	uc001tbm.2	-	2	649	c.260A>T	c.(259-261)GAG>GTG	p.E87V	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	87	LRR 1.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						AGTTACATTCTCAAAGGCCTT	0.378			NA											11	47					0	0	0.013537	0	0
POLR3B	55703	broad.mit.edu	37	12	106772115	106772115	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:106772115C>G	uc001tlp.2	+	8	789	c.567C>G	c.(565-567)ATC>ATG	p.I189M	POLR3B_uc001tlq.2_Missense_Mutation_p.I131M	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	189					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						AGAACAGGATCATCGTGGAGG	0.418			NA											14	114					0	0	0.016723	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899644	128899644	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:128899644C>T	uc001uhs.3	+	1	354	c.117C>T	c.(115-117)TTC>TTT	p.F39F		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	151	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						AGGTTCTTTTCCACATCATGG	0.532			NA											7	9					0	0	0.004482	0	0
FZD10	11211	broad.mit.edu	37	12	130648151	130648151	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:130648151G>C	uc001uii.2	+	1	1120	c.664G>C	c.(664-666)GAG>CAG	p.E222Q	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	222	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGGAGCCGCGAGGACAAGCG	0.642			NA											18	60					0	0	0.006122	0	0
DOCK9	23348	broad.mit.edu	37	13	99508166	99508166	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:99508166T>C	uc001vnt.2	-	34	3875	c.3820A>G	c.(3820-3822)AAT>GAT	p.N1274D	DOCK9_uc001vnw.2_Missense_Mutation_p.N1273D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.N1274D|DOCK9_uc010tip.1_5'Flank|DOCK9_uc010tiq.1_Missense_Mutation_p.N252D|DOCK9_uc010afu.1_3'UTR	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1274					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCAGGGAATTGCTCTTCTCA	0.393			NA											48	90					0	0	0.01441	0	0
MYO16	23026	broad.mit.edu	37	13	109365050	109365050	+	Missense_Mutation	SNP	G	G	T	rs111464054	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:109365050G>T	uc001vqt.1	+	3	394	c.268G>T	c.(268-270)GTC>TTC	p.V90F	MYO16_uc010agk.1_Missense_Mutation_p.V112F	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	90					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACACCCTCGTCTCCTCGGG	0.577			NA											25	73					2.49675e-24	3.25567e-24	0.007291	1	0
MYO16	23026	broad.mit.edu	37	13	109550455	109550455	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:109550455G>A	uc001vqt.1	+	15	1811	c.1685G>A	c.(1684-1686)TGT>TAT	p.C562Y	MYO16_uc010agk.1_Missense_Mutation_p.C584Y|MYO16_uc001vqu.1_Missense_Mutation_p.C362Y|MYO16_uc010tjh.1_Missense_Mutation_p.C74Y	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	562	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCAGTTCTGTGAGAGGAAA	0.488			NA											13	41					0	0	0.013537	0	0
OR4N2	390429	broad.mit.edu	37	14	20295677	20295677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:20295677C>T	uc010tkv.1	+	1	70	c.70C>T	c.(70-72)CAG>TAG	p.Q24*		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAAGATATTCAGCTCCTGGT	0.428			NA											6	237					0	0	0.001168	0	0
HAUS4	54930	broad.mit.edu	37	14	23421791	23421791	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:23421791C>T	uc001whp.2	-	2	188	c.157G>A	c.(157-159)GAG>AAG	p.E53K	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Missense_Mutation_p.E53K|HAUS4_uc001whr.2_Missense_Mutation_p.E53K|HAUS4_uc001whs.2_Missense_Mutation_p.E53K|HAUS4_uc001wht.2_Missense_Mutation_p.E53K|HAUS4_uc001whu.2_Missense_Mutation_p.E53K|HAUS4_uc001whv.2_Intron|HAUS4_uc001whw.2_Missense_Mutation_p.E53K|HAUS4_uc001whx.2_Missense_Mutation_p.E53K	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	53					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						AAGCCACTCTCATCCACATGC	0.483			NA											10	84					0	0	0.010729	0	0
MYH7	4625	broad.mit.edu	37	14	23894032	23894032	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:23894032C>G	uc001wjx.2	-	22	2731	c.2625G>C	c.(2623-2625)GAG>GAC	p.E875D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	875	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCATCTTCTCCTCCAGCT	0.587			NA											12	85					0	0	0.013537	0	0
STRN3	29966	broad.mit.edu	37	14	31380333	31380333	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:31380333C>G	uc001wqu.2	-	13	1850	c.1634G>C	c.(1633-1635)GGA>GCA	p.G545A	STRN3_uc001wqv.2_Missense_Mutation_p.G461A|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	545	WD 2.				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACACTGTTCTCCATTAGAACT	0.373			NA											3	43					0	0	0.004672	0	0
MIA2	117153	broad.mit.edu	37	14	39722410	39722410	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:39722410T>A	uc001wux.2	+	6	2116	c.1922T>A	c.(1921-1923)TTA>TAA	p.L641*		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	Error:Variant_position_missing_in_Q96PC5_after_alignment						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GCAATAATTTTACCTATTTTG	0.289			NA											24	49					0	0	0.016522	0	0
LRFN5	145581	broad.mit.edu	37	14	42360955	42360955	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:42360955C>A	uc001wvm.2	+	4	3086	c.1888C>A	c.(1888-1890)CCT>ACT	p.P630T	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	630	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCTGCTTTGCCTCCTTCCTG	0.458			NA								HNSCC(30;0.082)			15	40					2.31682e-05	2.48471e-05	0.003163	1	0
NIN	51199	broad.mit.edu	37	14	51223726	51223726	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:51223726T>A	uc001wym.2	-	18	4213	c.4022A>T	c.(4021-4023)CAG>CTG	p.Q1341L	NIN_uc001wyi.2_Missense_Mutation_p.Q1341L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.Q1347L|NIN_uc001wyo.2_Missense_Mutation_p.Q1341L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1341	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					gtcacaccgctggaCCACGCT	0.204			NA	T	PDGFRB	MPD								19	29					0	0	0.007413	0	0
SYNE2	23224	broad.mit.edu	37	14	64416616	64416616	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:64416616C>T	uc001xgm.2	+	7	712	c.482C>T	c.(481-483)TCA>TTA	p.S161L	SYNE2_uc001xgk.2_Missense_Mutation_p.S161L|SYNE2_uc001xgl.2_Missense_Mutation_p.S161L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	161	Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGTTGACTCATCTCCTGCC	0.458			NA											54	188					0	0	0.01441	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68264845	68264845	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:68264845T>A	uc001xka.2	-	11	2273	c.2134A>T	c.(2134-2136)AGT>TGT	p.S712C	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S712C|ZFYVE26_uc010tta.1_Missense_Mutation_p.S712C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	712					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTGACTTTCTTGCTTT	0.542			NA											22	62					0	0	0.014323	0	0
SEL1L	6400	broad.mit.edu	37	14	81964292	81964292	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:81964292C>T	uc010tvv.1	-	10	1189	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	358	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATCAAATCTTCTTCTAGCATT	0.403			NA											4	51					0	0	0.009096	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697044	94697044	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:94697044C>G	uc001ycs.1	+	4	569	c.415C>G	c.(415-417)CTC>GTC	p.L139V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	139						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						CCAAGTCATTCTCCTGCATCT	0.418			NA											18	58					0	0	0.010504	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005469	101005469	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:101005469G>T	uc010txa.1	-	6	765	c.619C>A	c.(619-621)CTG>ATG	p.L207M	BEGAIN_uc001yhp.2_Missense_Mutation_p.L143M|BEGAIN_uc001yhq.2_Missense_Mutation_p.L207M	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	207						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CAGAAGGCCAGGTCGCGGGCG	0.692	NSCLC(159;1889 2010 9965 27479 40101)		NA											4	18					1.23904e-05	1.35334e-05	0.014758	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103442080	103442080	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:103442080C>T	uc001ymi.1	-	11	1680	c.1448G>A	c.(1447-1449)CGA>CAA	p.R483Q		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	483	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCTTTATCTCGGTTTGAATT	0.473			NA											5	169					0	0	0.014758	0	0
Unknown	0	broad.mit.edu	37	15	22440499	22440499	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:22440499G>C	uc001yug.2	-	1	367	c.348C>G	c.(346-348)CAC>CAG	p.H116Q						full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).												NA						GCGGCGCATAGTGGGACTCGT	0.473			NA											4	29					0	0	0.009096	0	0
UBE3A	7337	broad.mit.edu	37	15	25599717	25599717	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:25599717T>G	uc001zaq.2	-	8	2247	c.2247A>C	c.(2245-2247)TTA>TTC	p.L749F	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L726F|UBE3A_uc001zas.2_Missense_Mutation_p.L746F|UBE3A_uc001zat.2_Missense_Mutation_p.L726F	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	749					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGGTCTGAATAAGTACTTTA	0.348			NA											4	120					0	0	0.009096	0	0
GREM1	26585	broad.mit.edu	37	15	33022958	33022958	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:33022958G>A	uc001zhe.1	+	2	226	c.67G>A	c.(67-69)GAA>AAA	p.E23K	GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Missense_Mutation_p.E23K	NM_013372	NP_037504	O60565	GREM1_HUMAN	gremlin-1 precursor	23					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity				0		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCCGGCTGCTGAAGGGAAAAA	0.607			NA											13	52					0	0	0.016723	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060883	48060883	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:48060883T>C	uc010bek.2	+	18	2231	c.1871T>C	c.(1870-1872)TTT>TCT	p.F624S	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.F624S|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	624	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTCGGAAATTTGTAGTTCAA	0.438			NA											28	59					0	0	0.008361	0	0
TMC3	342125	broad.mit.edu	37	15	81627180	81627180	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:81627180C>G	uc002bgo.1	-	21	2340	c.2340G>C	c.(2338-2340)AAG>AAC	p.K780N	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	780	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						TCCTGCCACTCTTGCTGCTCC	0.607			NA											4	101					0	0	0.014758	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532884	82532884	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:82532884G>C	uc002bgt.1	-	6	560	c.391C>G	c.(391-393)CTG>GTG	p.L131V	EFTUD1_uc002bgu.1_Missense_Mutation_p.L80V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	131					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GCTTGTCGCAGAACTGCCTGT	0.368			NA											3	25					0	0	0.004672	0	0
NPRL3	8131	broad.mit.edu	37	16	139797	139797	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:139797C>G	uc002cfr.2	-	12	1364	c.1265G>C	c.(1264-1266)CGT>CCT	p.R422P	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Missense_Mutation_p.R243P|NPRL3_uc010uub.1_Missense_Mutation_p.R397P|NPRL3_uc010uuc.1_Missense_Mutation_p.R344P|NPRL3_uc002cfs.1_Missense_Mutation_p.R397P	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	422							protein binding			ovary(1)	1						CTCTCGCGGACGGGGCTCCTC	0.667			NA											3	14					0	0	0.004672	0	0
FAHD1	81889	broad.mit.edu	37	16	1877419	1877419	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:1877419G>A	uc002cnc.1	+	1	195	c.189G>A	c.(187-189)GCG>GCA	p.A63A	HAGH_uc002cmz.2_5'Flank|HAGH_uc002cna.2_5'Flank|HAGH_uc010uvp.1_5'Flank|HAGH_uc002cnb.1_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.2_Silent_p.A63A|FAHD1_uc010brz.2_Silent_p.A63A	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing	63						mitochondrion	hydrolase activity|metal ion binding|protein binding				0						TCATGCCCGCGTACACTCGCA	0.697			NA											4	78					0	0	0.014758	0	0
RABEP2	79874	broad.mit.edu	37	16	28917071	28917071	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:28917071C>A	uc002drq.2	-	11	1493	c.1445G>T	c.(1444-1446)TGC>TTC	p.C482F	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.C411F|RABEP2_uc010byn.2_Missense_Mutation_p.C446F	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	482	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CCTCAGGCTGCACAGGGAGGC	0.657	Pancreas(66;639 1284 10093 31061 49099)		NA											37	57					1.66425e-11	1.98636e-11	0.021022	1	0
TBC1D10B	26000	broad.mit.edu	37	16	30376327	30376327	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:30376327C>T	uc002dxu.2	-	4	1183	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K		NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	389	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity				0			Colorectal(24;0.193)			CGTTCCAGCTCCTGCAGTGGG	0.607			NA											3	26					0	0	0.009096	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:32890622T>G	uc002edh.1	-	5	440	c.264A>C	c.(262-264)AAA>AAC	p.K88N	SLC6A10P_uc002edi.1_RNA					RecName: Full=Transporter;												0						CGTTGGTGTTTTTGTAGACCA	0.512			NA											3	11					0	0	0.009096	0	0
ZNF423	23090	broad.mit.edu	37	16	49672436	49672436	+	Silent	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:49672436G>C	uc002efs.2	-	5	925	c.627C>G	c.(625-627)CTC>CTG	p.L209L	ZNF423_uc010vgn.1_Silent_p.L92L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	209	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGTGGATCTTGAGGTGGTCGC	0.607			NA											8	33					0	0	0.004482	0	0
CDH1	999	broad.mit.edu	37	16	68862085	68862085	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:68862085C>T	uc002ewg.1	+	14	2297	c.2173C>T	c.(2173-2175)CTG>TTG	p.L725L	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.L664L	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	725	Helical; (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGTTCTGATTCTGCTGCTCTT	0.517			NA	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				9	92					0	0	0.004482	0	0
PRDM7	11105	broad.mit.edu	37	16	90141396	90141396	+	Silent	SNP	G	G	T	rs147971971	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:90141396G>T	uc010cje.2	-	3	249	c.229C>A	c.(229-231)CGA>AGA	p.R77R	PRDM7_uc010cjf.2_Silent_p.R4R|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	77	KRAB-related.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCTGCCTTCGGTGACACATG	0.488			NA											18	32					9.7654e-05	0.000102502	0.007413	1	0
ZZEF1	23140	broad.mit.edu	37	17	3935493	3935493	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:3935493C>G	uc002fxe.2	-	42	6883	c.6819G>C	c.(6817-6819)GTG>GTC	p.V2273V	ZZEF1_uc002fxh.2_Silent_p.V587V|ZZEF1_uc002fxi.2_Silent_p.V508V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2273							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAAGATGATCACATTATGGG	0.418			NA											4	89					0	0	0.009096	0	0
ZNF232	7775	broad.mit.edu	37	17	5009283	5009283	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:5009283C>G	uc002gas.2	-	5	1844	c.1090G>C	c.(1090-1092)GAG>CAG	p.E364Q	ZNF232_uc002gar.1_Missense_Mutation_p.E382Q|ZNF232_uc002gat.2_Missense_Mutation_p.E391Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	364	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TTCCCACACTCATTACACTCA	0.438			NA											24	54					0	0	0.016522	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738629	8738629	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:8738629C>A	uc002glq.1	-	8	846	c.606G>T	c.(604-606)GGG>GGT	p.G202G	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	202					platelet activation	cytosol					0						GACAGGCCTCCCCCAGAGCCG	0.672			NA											6	18					3.59834e-05	3.81759e-05	0.001168	1	0
MYH8	4626	broad.mit.edu	37	17	10307870	10307870	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10307870C>A	uc002gmm.2	-	22	2560	c.2465G>T	c.(2464-2466)CGT>CTT	p.R822L	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	822					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CATGAAGGCACGGACATTATA	0.443			NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				20	59					7.41877e-09	8.4786e-09	0.012319	1	0
MYH4	4622	broad.mit.edu	37	17	10355805	10355805	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10355805G>T	uc002gmn.2	-	26	3387	c.3276C>A	c.(3274-3276)AGC>AGA	p.S1092R	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1092	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTTGCAGATTGCTCATTTCAA	0.338			NA											11	30					1.08611e-07	1.21316e-07	0.010729	1	0
MFAP4	4239	broad.mit.edu	37	17	19289684	19289684	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:19289684G>A	uc002gvt.2	-	3	204	c.179C>T	c.(178-180)TCG>TTG	p.S60L	MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.S84L	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4 precursor	60	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACTGGGGCCCGAGGGGTAGAT	0.478			NA											4	28					0	0	0.009096	0	0
FLJ40504	284085	broad.mit.edu	37	17	26604103	26604103	+	Silent	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:26604103G>C	uc002has.3	-	3	468	c.372C>G	c.(370-372)CTC>CTG	p.L124L		NM_173624	NP_775895			SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18;												0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGTGGTCGTTGAGGCTTTGCA	0.607			NA											11	123					0	0	0.010729	0	0
RPL23A	6147	broad.mit.edu	37	17	27047846	27047846	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:27047846G>A	uc002hci.2	+	2	171	c.147G>A	c.(145-147)CCG>CCA	p.P49P	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	49					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					TCCGGCGGCCGAAGACACTGC	0.537			NA									OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	74					0	0	0.016723	0	0
SLC6A4	6532	broad.mit.edu	37	17	28539761	28539761	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:28539761C>T	uc002hey.3	-	9	1745	c.1201G>A	c.(1201-1203)GCA>ACA	p.A401T	SLC6A4_uc010csg.2_5'Flank	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	401					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTCCTACCTGCGTCTTTGGCC	0.443			NA											4	70					0	0	0.014758	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:34077157T>G	uc002hjv.1	-	2	594	c.566A>C	c.(565-567)GAC>GCC	p.D189A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741			NA											6	54					0	0	0.008291	0	0
PSMD3	5709	broad.mit.edu	37	17	38140573	38140573	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:38140573G>A	uc002htn.1	+	2	411	c.247G>A	c.(247-249)GAG>AAG	p.E83K	PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Intron	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GAAACAGCTAGAGAAAGCGGT	0.522	Ovarian(186;531 2051 6385 19668 48409)		NA											4	57					0	0	0.009096	0	0
KRT39	390792	broad.mit.edu	37	17	39116741	39116741	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:39116741C>G	uc002hvo.1	-	6	1045	c.1009G>C	c.(1009-1011)GAG>CAG	p.E337Q	KRT39_uc010wfm.1_Missense_Mutation_p.E70Q	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	337	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				AGGATGCACTCTTGGGAATCT	0.473			NA											4	191					0	0	0.009096	0	0
TMEM100	55273	broad.mit.edu	37	17	53798254	53798254	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:53798254A>G	uc002iuj.3	-	2	489	c.178T>C	c.(178-180)TTT>CTT	p.F60L	TMEM100_uc002iuk.3_Missense_Mutation_p.F60L	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	60	Helical; (Potential).					integral to membrane					0						ACCACAGCAAAGGGGATGATG	0.537			NA											30	104					0	0	0.007291	0	0
C17orf58	284018	broad.mit.edu	37	17	65988130	65988130	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:65988130G>T	uc002jgi.3	-	3	508	c.193C>A	c.(193-195)CCA>ACA	p.P65T	C17orf58_uc002jgj.3_3'UTR	NM_181655	NP_858041	Q2M2W7	CQ058_HUMAN	hypothetical protein LOC284018 isoform a	65											0	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCATCCCCTGGACGGAGGCGG	0.512			NA											32	78					5.60225e-13	6.82414e-13	0.009535	1	0
P4HB	5034	broad.mit.edu	37	17	79801962	79801962	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:79801962C>G	uc002kbn.1	-	11	1650	c.1453G>C	c.(1453-1455)GAG>CAG	p.E485Q	P4HB_uc002kbl.1_Missense_Mutation_p.E162Q|P4HB_uc002kbm.1_Missense_Mutation_p.E162Q	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	485					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCAGGTCCTCGAGATCCTGG	0.602	Colon(49;444 983 1296 7887 42561)		NA											6	298					0	0	0.001168	0	0
ZNF521	25925	broad.mit.edu	37	18	22806582	22806582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:22806582C>A	uc002kvk.2	-	4	1547	c.1300G>T	c.(1300-1302)GAA>TAA	p.E434*	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E434*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E214*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	434					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGCCTGTTCTGGCTTATCT	0.413			NA	T	PAX5	ALL								17	49					1.5739e-10	1.82695e-10	0.004007	1	0
CDH2	1000	broad.mit.edu	37	18	25543371	25543371	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:25543371C>A	uc002kwg.2	-	15	2923	c.2464G>T	c.(2464-2466)GTC>TTC	p.V822F	CDH2_uc010xbn.1_Missense_Mutation_p.V791F	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	822	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						GCAGATCGGACCGGATACTGG	0.522			NA											7	50					0.000157383	0.000164033	0.00308	1	0
DSG1	1828	broad.mit.edu	37	18	28916510	28916510	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:28916510C>T	uc002kwp.2	+	9	1411	c.1199C>T	c.(1198-1200)TCA>TTA	p.S400L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	400	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATATGGGATCAAATGATAAA	0.388			NA											8	41					0	0	0.004482	0	0
SYT4	6860	broad.mit.edu	37	18	40854133	40854133	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:40854133C>T	uc002law.2	-	2	630	c.261G>A	c.(259-261)GTG>GTA	p.V87V	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.V69V|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	87	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						AATTCTTTGGCACAGCTGGCT	0.388	NSCLC(85;81 1419 2855 22820 35912)		NA											16	48					0	0	0.003163	0	0
BCL2	596	broad.mit.edu	37	18	60795972	60795972	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:60795972G>A	uc002lit.1	-	3	1099	c.606C>T	c.(604-606)TAC>TAT	p.Y202Y	BCL2_uc002liu.1_Silent_p.Y202Y	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	202	BH2.				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TGCTGGGGCCGTACAGTTCCA	0.542			NA	T	IGH@	NHL|CLL								12	21					0	0	0.010729	0	0
ZNF236	7776	broad.mit.edu	37	18	74639027	74639027	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:74639027G>T	uc002lmi.2	+	23	4254	c.4056G>T	c.(4054-4056)GGG>GGT	p.G1352G	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1352					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAGATGGGAGCCTGGCTA	0.438			NA											24	63					9.95505e-16	1.25927e-15	0.014323	1	0
TJP3	27134	broad.mit.edu	37	19	3730104	3730104	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:3730104G>C	uc010xhv.1	+	3	294	c.294G>C	c.(292-294)AAG>AAC	p.K98N	TJP3_uc010xhs.1_Missense_Mutation_p.K79N|TJP3_uc010xht.1_Missense_Mutation_p.K43N|TJP3_uc010xhu.1_Missense_Mutation_p.K88N|TJP3_uc010xhw.1_Missense_Mutation_p.K98N	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	79	PDZ 1.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATACTCAAGACCTGCACCA	0.547			NA											17	64					0	0	0.00499	0	0
MUC16	94025	broad.mit.edu	37	19	9020110	9020110	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9020110T>C	uc002mkp.2	-	21	37589	c.37385A>G	c.(37384-37386)CAT>CGT	p.H12462R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12464	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCAAGATGATGGATGCAGAT	0.537			NA											54	151					0	0	0.01441	0	0
MUC16	94025	broad.mit.edu	37	19	9061355	9061355	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9061355A>T	uc002mkp.2	-	3	26295	c.26091T>A	c.(26089-26091)ACT>ACA	p.T8697T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8699	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGTCATCATAGTTTCTGGGA	0.483			NA											19	54					0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9069180	9069180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9069180G>C	uc002mkp.2	-	3	18470	c.18266C>G	c.(18265-18267)TCA>TGA	p.S6089*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6091	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCTGTAGTTGAGTTCATCAC	0.488			NA											5	67					0	0	0.014758	0	0
CACNA1A	773	broad.mit.edu	37	19	13423508	13423508	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:13423508G>A	uc010dze.2	-	12	1882	c.1646C>T	c.(1645-1647)TCT>TTT	p.S549F	CACNA1A_uc010dzc.2_Missense_Mutation_p.S74F|CACNA1A_uc002mwy.3_Missense_Mutation_p.S548F|CACNA1A_uc010xne.1_Missense_Mutation_p.S74F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	549	Cytoplasmic (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGAAGGAAGAGTGGAAGTA	0.428			NA											4	57					0	0	0.009096	0	0
AKAP8L	26993	broad.mit.edu	37	19	15510160	15510160	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:15510160C>G	uc002naw.1	-	9	1209	c.1110G>C	c.(1108-1110)AAG>AAC	p.K370N	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.K309N	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	370						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						TGTCCTGACTCTTCTTGCCTG	0.602			NA											5	80					0	0	0.014758	0	0
TMEM38A	79041	broad.mit.edu	37	19	16798999	16798999	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:16798999C>T	uc002nes.2	+	6	808	c.717C>T	c.(715-717)GCC>GCT	p.A239A		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	239	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						CCTTTGATGCCCTGGAGGGCT	0.622			NA											83	312					0	0	0.01441	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770648	31770648	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:31770648G>A	uc002nsy.3	-	2	116	c.51C>T	c.(49-51)TCC>TCT	p.S17S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	17					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TTAACTCTTCGGAAACATAGG	0.378			NA											17	45					0	0	0.006122	0	0
CCDC123	84902	broad.mit.edu	37	19	33370214	33370214	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:33370214G>A	uc002nty.2	-	19	2295	c.2206C>T	c.(2206-2208)CTC>TTC	p.L736F	CCDC123_uc002ntx.2_Missense_Mutation_p.L489F|CCDC123_uc010edg.2_RNA	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	736						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					GTGTCCTGGAGAAGTTCTCGG	0.512			NA											19	165					0	0	0.007413	0	0
ZFP30	22835	broad.mit.edu	37	19	38134173	38134173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:38134173C>T	uc002ogv.1	-	5	744	c.228G>A	c.(226-228)TGG>TGA	p.W76*	ZFP30_uc002ogw.1_Nonsense_Mutation_p.W76*|ZFP30_uc002ogx.1_Nonsense_Mutation_p.W76*|ZFP30_uc010xtt.1_Nonsense_Mutation_p.W75*	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	76	KRAB.				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)			TACCTAGAGTCCATCTTCTTT	0.468			NA											31	181					0	0	0.015359	0	0
RYR1	6261	broad.mit.edu	37	19	38939051	38939051	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:38939051C>A	uc002oit.2	+	10	987	c.857C>A	c.(856-858)ACC>AAC	p.T286N	RYR1_uc002oiu.2_Missense_Mutation_p.T286N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	286	MIR 4.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATGTCACTACCGGGCAGTAC	0.647			NA											44	109					1.8453e-21	2.36454e-21	0.010771	1	0
CEACAM5	1048	broad.mit.edu	37	19	42222239	42222239	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:42222239G>T	uc002ork.2	+	6	1551	c.1430G>T	c.(1429-1431)TGC>TTC	p.C477F	CEACAM5_uc002orj.1_Missense_Mutation_p.C476F|CEACAM5_uc002orl.2_Missense_Mutation_p.C477F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	477	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCTATACCTGCCAGGCCAAT	0.488			NA											16	67					1.52009e-12	1.84405e-12	0.003163	1	0
ZNF234	10780	broad.mit.edu	37	19	44660836	44660836	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:44660836C>G	uc002oym.2	+	6	974	c.667C>G	c.(667-669)CAG>GAG	p.Q223E	ZNF234_uc002oyl.3_Missense_Mutation_p.Q223E	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	223	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TCAAACTCATCAGAGAGTCCA	0.418			NA											5	178					0	0	0.014758	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911398	45911398	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:45911398G>A	uc002pbq.1	+	3	660	c.172G>A	c.(172-174)GGG>AGG	p.G58R	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.G60R	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	58					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TAGCTTCAATGGGCGGCATGT	0.468			NA											38	99					0	0	0.021022	0	0
FCGRT	2217	broad.mit.edu	37	19	50027842	50027842	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:50027842A>G	uc002poe.2	+	5	1166	c.680A>G	c.(679-681)TAC>TGC	p.Y227C	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.Y227C|FCGRT_uc002pof.1_Missense_Mutation_p.Y132C|FCGRT_uc010yax.1_3'UTR|FCGRT_uc002poh.1_Missense_Mutation_p.Y87C|FCGRT_uc002poi.2_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	227	Extracellular (Potential).|Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCTCCTTCTACCCTCCGGAG	0.652			NA											16	57					0	0	0.003163	0	0
KLK8	11202	broad.mit.edu	37	19	51499449	51499449	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:51499449C>A	uc002pur.1	-	6	828	c.649G>T	c.(649-651)GTG>TTG	p.V217L	KLK8_uc002puq.1_Missense_Mutation_p.V262L|KLK8_uc002pus.1_Missense_Mutation_p.V76L|KLK8_uc002put.1_Missense_Mutation_p.G31V|KLK8_uc002puu.1_Missense_Mutation_p.V217L|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	217	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CCATCACACACCAGGGGGCCT	0.572			NA											32	82					1.08312e-15	1.36427e-15	0.009535	1	0
ZNF525	170958	broad.mit.edu	37	19	53884844	53884844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:53884844C>T	uc010eqn.2	+	4	1097	c.904C>T	c.(904-906)CAG>TAG	p.Q302*	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	NR_003699				Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.												0						GACCTTTAGTCAGAAGTCATA	0.393			NA											4	58					0	0	0.009096	0	0
GP6	51206	broad.mit.edu	37	19	55526339	55526339	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:55526339C>A	uc002qik.2	-	8	998	c.970G>T	c.(970-972)GGT>TGT	p.G324C	GP6_uc002qil.2_Missense_Mutation_p.G325V|GP6_uc010esq.2_Missense_Mutation_p.G306C	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	324	Cytoplasmic (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCATCCTGACCCCCGTTTGAT	0.667			NA											9	16					0.000673444	0.000696991	0.008291	1	0
ZIK1	284307	broad.mit.edu	37	19	58101402	58101402	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:58101402G>A	uc002qpg.2	+	4	320	c.223G>A	c.(223-225)GAA>AAA	p.E75K	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.E20K|ZIK1_uc002qpi.2_Missense_Mutation_p.E62K|ZIK1_uc002qpj.2_5'UTR	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACAGAGGATGAAGAGACACC	0.463			NA											7	37					0	0	0.001984	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764221	18764221	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:18764221C>G	uc002rcz.2	-	7	1218	c.1114G>C	c.(1114-1116)GAT>CAT	p.D372H	NT5C1B_uc002rcy.2_Missense_Mutation_p.D372H|NT5C1B_uc010exr.2_Missense_Mutation_p.D314H|NT5C1B_uc010yju.1_Missense_Mutation_p.D312H|NT5C1B_uc002rda.2_Missense_Mutation_p.D312H|NT5C1B_uc010yjv.1_Missense_Mutation_p.D389H|NT5C1B_uc010yjw.1_Missense_Mutation_p.D355H|NT5C1B_uc010exs.2_Missense_Mutation_p.D374H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	372					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCTGTTCATCAGGATATAGA	0.438			NA											16	55					0	0	0.00499	0	0
PUM2	23369	broad.mit.edu	37	2	20455932	20455932	+	Splice_Site	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:20455932C>T	uc002rds.1	-	16	2508	c.2485_splice	c.e16-1	p.S829_splice	PUM2_uc002rdq.1_Splice_Site_p.S208_splice|PUM2_uc002rdt.1_Splice_Site_p.S829_splice|PUM2_uc002rdr.2_Splice_Site_p.S689_splice|PUM2_uc010yjy.1_Splice_Site_p.S750_splice|PUM2_uc002rdu.1_Splice_Site_p.S829_splice|PUM2_uc010yjz.1_Splice_Site_p.S768_splice	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTCACTCTGCAAAAGAC	0.313			NA											13	52					0	0	0.020292	0	0
MRPL33	9553	broad.mit.edu	37	2	27997375	27997375	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:27997375T>A	uc002rlm.1	+	3	187	c.126T>A	c.(124-126)ACT>ACA	p.T42T	MRPL33_uc002rln.1_Intron	NM_004891	NP_004882	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33 isoform a	42					translation	mitochondrion|ribosome	structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.155)					AAAAACTGACTCTTTTGCATT	0.458			NA											19	72					0	0	0.008871	0	0
CRIM1	51232	broad.mit.edu	37	2	36691736	36691736	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:36691736G>A	uc002rpd.2	+	5	968	c.929G>A	c.(928-930)CGC>CAC	p.R310H		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	310	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCACTCCCCGCATAGTCTCT	0.483			NA											32	128					0	0	0.009535	0	0
DHX57	90957	broad.mit.edu	37	2	39029995	39029995	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:39029995G>A	uc002rrf.2	-	23	3978	c.3879C>T	c.(3877-3879)TTC>TTT	p.F1293F	DHX57_uc002rrd.3_Silent_p.F632F|DHX57_uc002rre.2_Silent_p.F726F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1293							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				AGTCTCGGATGAATACTCGAC	0.483	Melanoma(191;1090 2095 4375 23729 47341)		NA											5	151					0	0	0.014758	0	0
SOS1	6654	broad.mit.edu	37	2	39281778	39281778	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:39281778T>A	uc002rrk.3	-	5	738	c.697A>T	c.(697-699)AAT>TAT	p.N233Y	SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'Flank	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	233	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.N233Y(1)		ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AATTTTGAATTGGAGACAAAG	0.299			NA							Noonan_syndrome				17	21					0	0	0.004007	0	0
PREPL	9581	broad.mit.edu	37	2	44553939	44553939	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:44553939G>T	uc002ruf.2	-	10	1693	c.1658C>A	c.(1657-1659)ACA>AAA	p.T553K	PREPL_uc002rug.2_Missense_Mutation_p.T487K|PREPL_uc002ruh.2_Missense_Mutation_p.T491K|PREPL_uc010fax.2_Missense_Mutation_p.T553K|PREPL_uc002rui.3_Missense_Mutation_p.T464K|PREPL_uc002ruj.1_Missense_Mutation_p.T464K|PREPL_uc002ruk.1_Missense_Mutation_p.T553K	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	553					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCAGGGTTGTTAGACTTGG	0.502			NA											29	54					9.39395e-14	1.15378e-13	0.00632	1	0
PRKCE	5581	broad.mit.edu	37	2	46237565	46237565	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:46237565A>T	uc002rut.2	+	10	1543	c.1346A>T	c.(1345-1347)GAC>GTC	p.D449V		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	449	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGATGATGACGTGGACTGC	0.468			NA											18	62					0	0	0.007413	0	0
GPR75	10936	broad.mit.edu	37	2	54080406	54080407	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:54080406_54080407GC>AA	uc002rxo.3	-	2	1758_1759	c.1487_1488GC>TT	c.(1486-1488)AGC>ATT	p.S496I	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	496	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTTACATGGGCTGCTCTCCTC	0.46			NA											51	158					0	0	0.004672	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620354	80620354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:80620354G>T	uc010ysh.1	+	7	1080	c.1075G>T	c.(1075-1077)GGA>TGA	p.G359*	CTNNA2_uc010yse.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysi.1_Translation_Start_Site	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	359					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAAAGAAAAAGGAGATCCTCT	0.279			NA											17	58					3.51602e-12	4.23065e-12	0.008871	1	0
UGGT1	56886	broad.mit.edu	37	2	128938565	128938565	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:128938565C>T	uc002tps.2	+	36	4180	c.4002C>T	c.(4000-4002)ATC>ATT	p.I1334I	UGGT1_uc002tpr.2_Silent_p.I1310I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1334	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						AACAGCGTATCATCTGGGGTT	0.428			NA											4	88					0	0	0.009096	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540014	133540014	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:133540014G>T	uc002ttp.2	-	14	4744	c.4370C>A	c.(4369-4371)ACC>AAC	p.T1457N	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1457							protein binding				0						ATCAGTCGCGGTTGCAGAGGC	0.512			NA											16	51					2.31682e-05	2.48471e-05	0.003163	1	0
ARL6IP6	151188	broad.mit.edu	37	2	153575479	153575479	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:153575479C>T	uc002tyn.2	+	1	1057	c.341C>T	c.(340-342)TCG>TTG	p.S114L	ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	114	Helical; (Potential).					integral to membrane					0						ATTCTCTGCTCGCTGCTCTTC	0.587			NA											22	56					0	0	0.014323	0	0
PPIG	9360	broad.mit.edu	37	2	170471176	170471176	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:170471176C>T	uc002uez.2	+	9	709	c.489C>T	c.(487-489)AGC>AGT	p.S163S	PPIG_uc010fpx.2_Silent_p.S148S|PPIG_uc010fpy.2_Silent_p.S159S|PPIG_uc002ufa.2_Silent_p.S163S|PPIG_uc002ufb.2_Silent_p.S163S|PPIG_uc002ufc.1_Silent_p.S163S|PPIG_uc002ufd.2_Silent_p.S163S	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	163	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	ATGCAGCTAGCAAACCGTTTG	0.378			NA											4	94					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196729356	196729356	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:196729356C>A	uc002utj.3	-	41	7124	c.7023G>T	c.(7021-7023)GGG>GGT	p.G2341G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2341	ATP (Potential).|AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCCCTCCAACCCCTACTAGGA	0.473			NA											20	49					2.94398e-08	3.33877e-08	0.007413	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217347624	217347624	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:217347624C>T	uc002vgc.3	+	18	3119	c.2789C>T	c.(2788-2790)TCA>TTA	p.S930L	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.S930L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.S908L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	930					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GATGAAAGCTCATTGACAGCC	0.448			NA							Schimke_Immuno-Osseous_Dysplasia				6	157					0	0	0.001984	0	0
ATG9A	79065	broad.mit.edu	37	2	220090255	220090255	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:220090255G>A	uc002vke.1	-	6	438	c.252C>T	c.(250-252)GTC>GTT	p.V84V	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.V84V	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	84	Helical; (Potential).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACGCAGCTGACCAGGAAGG	0.537			NA											20	57					0	0	0.008871	0	0
C2orf85	285093	broad.mit.edu	37	2	242814574	242814574	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:242814574C>T	uc010fzu.1	+	2	890	c.867C>T	c.(865-867)CTC>CTT	p.L289L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	289						integral to membrane				ovary(1)	1						AGGGCTTCCTCTTCAAAGGCC	0.677			NA											13	99					0	0	0.013537	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209242	3209242	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:3209242G>A	uc002wig.2	-	17	2400	c.2352C>T	c.(2350-2352)CTC>CTT	p.L784L	SLC4A11_uc010zqe.1_Silent_p.L811L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.L768L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	784	Helical; (Potential).|Membrane (bicarbonate transporter).			L -> R (in Ref. 3; AAI10541).	cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGAGGCCATAGAGCACGGGCT	0.667	NSCLC(190;922 2139 10266 10292 38692)		NA											4	88					0	0	0.009096	0	0
CDC25B	994	broad.mit.edu	37	20	3782967	3782967	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:3782967G>A	uc002wjn.2	+	11	1916	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	CDC25B_uc010zqk.1_Missense_Mutation_p.E316K|CDC25B_uc010zql.1_Missense_Mutation_p.E302K|CDC25B_uc010zqm.1_Missense_Mutation_p.E289K|CDC25B_uc002wjl.2_Missense_Mutation_p.E268K|CDC25B_uc002wjm.2_Missense_Mutation_p.E268K|CDC25B_uc002wjo.2_Missense_Mutation_p.E366K|CDC25B_uc002wjp.2_Missense_Mutation_p.E339K|CDC25B_uc002wjq.2_Missense_Mutation_p.E180K|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	380					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						GTGTCACGATGAGATCGAGAA	0.582			NA											4	92					0	0	0.014758	0	0
VSX1	30813	broad.mit.edu	37	20	25057043	25057043	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:25057043C>G	uc002wuf.2	-	5	987	c.952G>C	c.(952-954)GAG>CAG	p.E318Q	VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	visual system homeobox 1 isoform a	318					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGCCATTCTCAGGGCTCACT	0.542			NA											9	90					0	0	0.004482	0	0
MYH7B	57644	broad.mit.edu	37	20	33584527	33584527	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:33584527C>G	uc002xbi.1	+	28	3450	c.3358C>G	c.(3358-3360)CAA>GAA	p.Q1120E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1078	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGATGCTGCTCAAGACAAGCA	0.622			NA											3	42					0	0	0.009096	0	0
LBP	3929	broad.mit.edu	37	20	36997691	36997691	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:36997691C>G	uc002xic.1	+	10	1069	c.1034C>G	c.(1033-1035)TCT>TGT	p.S345C		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	345					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				TCAGTGCCCTCTGCTCCGCTC	0.512			NA											49	126					0	0	0.01441	0	0
LPIN3	64900	broad.mit.edu	37	20	39977393	39977393	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:39977393G>A	uc002xjx.2	+	4	514	c.423G>A	c.(421-423)CGG>CGA	p.R141R	LPIN3_uc010ggh.2_Silent_p.R141R|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	141	Nuclear localization signal (Potential).				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				CCACTGGGCGGAGGAAGAGGC	0.627			NA											4	29					0	0	0.009096	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044851	62044851	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:62044851G>A	uc002yey.1	-	15	1892	c.1715C>T	c.(1714-1716)TCA>TTA	p.S572L	KCNQ2_uc002yez.1_Missense_Mutation_p.S541L|KCNQ2_uc002yfa.1_Missense_Mutation_p.S554L|KCNQ2_uc002yfb.1_Missense_Mutation_p.S544L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	572	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGCCGGCTGAGTACTGCTC	0.627			NA											4	79					0	0	0.014758	0	0
SON	6651	broad.mit.edu	37	21	34925451	34925451	+	Missense_Mutation	SNP	T	T	C	rs146846126	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr21:34925451T>C	uc002yse.1	+	3	3963	c.3914T>C	c.(3913-3915)ATG>ACG	p.M1305T	SON_uc002ysb.1_Missense_Mutation_p.M1305T|SON_uc002ysc.2_Missense_Mutation_p.M1305T|SON_uc002ysd.2_Missense_Mutation_p.M296T|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.M296T	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1305					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CCTCCTGTTATGTCAGAGACA	0.463			NA											20	54					0	0	0.007413	0	0
PEX26	55670	broad.mit.edu	37	22	18566424	18566424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr22:18566424C>T	uc002znp.3	+	4	802	c.593C>T	c.(592-594)GCC>GTC	p.A198V	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A198V|PEX26_uc002znt.2_Missense_Mutation_p.A198V	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	198	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						GTACTTCAGGCCATTCACACA	0.597			NA											11	49					0	0	0.008291	0	0
PI4KA	5297	broad.mit.edu	37	22	21075604	21075604	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr22:21075604C>T	uc002zsz.3	-	43	5155	c.4924G>A	c.(4924-4926)GAG>AAG	p.E1642K	PI4KA_uc010gsp.2_Missense_Mutation_p.E35K|PI4KA_uc002zsy.3_Missense_Mutation_p.E452K	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1642					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGTGGCCCTCTTCATCTAGA	0.517	GBM(136;1332 1831 3115 23601 50806)		NA											4	94					0	0	0.009096	0	0
NKTR	4820	broad.mit.edu	37	3	42679594	42679594	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:42679594G>A	uc003clo.2	+	13	2545	c.2398G>A	c.(2398-2400)GAG>AAG	p.E800K	NKTR_uc003clm.1_Missense_Mutation_p.E547K|NKTR_uc003clp.2_Missense_Mutation_p.E547K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E690K|NKTR_uc003clr.1_Missense_Mutation_p.E547K|NKTR_uc003cls.2_Missense_Mutation_p.E500K	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	800	Arg/Ser-rich.				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)		AAAGTATAGCGAGAGCAGATC	0.428			NA											4	84					0	0	0.009096	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060179	49060179	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:49060179C>T	uc003cvq.2	+	3	819	c.315C>T	c.(313-315)TTC>TTT	p.F105F	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Silent_p.F48F|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Silent_p.F48F|NDUFAF3_uc003cvr.2_Silent_p.F48F|NDUFAF3_uc003cvs.2_Silent_p.F48F	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	105					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						TTTCCCTCTTCTGGTTGCTGG	0.582			NA											24	223					0	0	0.016522	0	0
CDHR4	389118	broad.mit.edu	37	3	49837234	49837234	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:49837234G>A	uc010hkz.2	-	1	21	c.12C>T	c.(10-12)CTC>CTT	p.L4L	CDHR4_uc003cxp.2_Silent_p.L4L|CDHR4_uc011bcw.1_Silent_p.L4L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						CGAGGAGCCTGAGCAGCACCA	0.552			NA											3	59					0	0	0.009096	0	0
DOCK3	1795	broad.mit.edu	37	3	51418609	51418609	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:51418609C>T	uc011bds.1	+	53	5735	c.5712C>T	c.(5710-5712)TCC>TCT	p.S1904S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1904						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGGGCACTCCTCGGAGGCCC	0.607			NA											27	91					0	0	0.021523	0	0
CD47	961	broad.mit.edu	37	3	107798948	107798948	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:107798948G>A	uc003dwt.1	-	2	470	c.290C>T	c.(289-291)TCT>TTT	p.S97F	CD47_uc003dwu.1_Missense_Mutation_p.S97F|CD47_uc003dwv.1_Missense_Mutation_p.S97F|CD47_uc003dww.1_Missense_Mutation_p.S97F	NM_001777	NP_001768	Q08722	CD47_HUMAN	CD47 antigen isoform 1 precursor	97	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CATCTTCAAAGAGGCATCTCC	0.393			NA											9	102					0	0	0.004482	0	0
DRD3	1814	broad.mit.edu	37	3	113850152	113850152	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:113850152T>A	uc003ebd.2	-	7	1242	c.819A>T	c.(817-819)GGA>GGT	p.G273G	DRD3_uc010hqn.1_Silent_p.G273G|DRD3_uc003ebb.1_Silent_p.G273G|DRD3_uc003ebc.1_Silent_p.G273G	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	273	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TCAACTCTCCTCCTCTTTCTT	0.527			NA											40	135					0	0	0.006999	0	0
UBXN7	26043	broad.mit.edu	37	3	196094967	196094967	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:196094967C>G	uc003fwm.3	-	8	841	c.766G>C	c.(766-768)GGA>CGA	p.G256R	UBXN7_uc003fwn.3_Missense_Mutation_p.G108R|UBXN7_uc010iae.2_Missense_Mutation_p.G94R	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	256							protein binding			ovary(2)|pancreas(1)	3						CCCAGAAATCCCGTCACTTGG	0.398			NA											15	69					0	0	0.020292	0	0
ACOX3	8310	broad.mit.edu	37	4	8398816	8398816	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:8398816C>A	uc010idk.2	-	9	1049	c.904G>T	c.(904-906)GGG>TGG	p.G302W	ACOX3_uc003glc.3_Missense_Mutation_p.G302W|ACOX3_uc003gld.3_Missense_Mutation_p.G302W|ACOX3_uc003gle.1_Missense_Mutation_p.G207W	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	302					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						GACAGGCTCCCCAGGGACGCT	0.647			NA											21	41					0.00152264	0.00157039	0.010504	1	0
TBC1D19	55296	broad.mit.edu	37	4	26741526	26741526	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:26741526G>A	uc003gsf.3	+	17	1428	c.1158G>A	c.(1156-1158)TTG>TTA	p.L386L	TBC1D19_uc010iew.2_Silent_p.L386L|TBC1D19_uc011bxu.1_Silent_p.L321L	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	386	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				CTTCCAAATTGTATCAGATAT	0.303			NA											23	67					0	0	0.01892	0	0
CWH43	80157	broad.mit.edu	37	4	48996650	48996650	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:48996650A>G	uc003gyv.2	+	5	708	c.526A>G	c.(526-528)AAA>GAA	p.K176E	CWH43_uc011bzl.1_Missense_Mutation_p.K149E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	176					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						TGACTGCAGTAAACCTGAAGA	0.423			NA											39	73					0	0	0.006999	0	0
LPHN3	23284	broad.mit.edu	37	4	62598706	62598706	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:62598706G>T	uc010ihh.2	+	5	802	c.629G>T	c.(628-630)GGA>GTA	p.G210V	LPHN3_uc003hcq.3_Missense_Mutation_p.G210V|LPHN3_uc010ihg.1_Missense_Mutation_p.G278V|LPHN3_uc003hcs.1_Missense_Mutation_p.G39V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	210	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GATGGCACAGGATTTGTAGTG	0.448			NA											9	45					2.52707e-12	3.05311e-12	0.006214	1	0
TECRL	253017	broad.mit.edu	37	4	65165722	65165722	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:65165722C>A	uc003hcv.2	-	8	853	c.744G>T	c.(742-744)AGG>AGT	p.R248S		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	248					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						CTGTGATTTGCCTGTTTCCAA	0.308			NA											37	76					9.62906e-15	1.19255e-14	0.00623	1	0
MEPE	56955	broad.mit.edu	37	4	88766956	88766956	+	Silent	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:88766956T>C	uc003hqy.2	+	4	975	c.936T>C	c.(934-936)AAT>AAC	p.N312N	MEPE_uc010ikn.2_Silent_p.N199N	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	312					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGAAAATGGTGGAAATA	0.443			NA											27	53					0	0	0.00632	0	0
BMPR1B	658	broad.mit.edu	37	4	96035971	96035971	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:96035971C>T	uc003htm.3	+	5	518	c.244C>T	c.(244-246)CGG>TGG	p.R82W	BMPR1B_uc010ilb.2_Missense_Mutation_p.R82W|BMPR1B_uc003htn.3_Missense_Mutation_p.R82W	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	82	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTTTCAGTGTCGGGTAAGGTA	0.423			NA											34	125					0	0	0.010818	0	0
INPP4B	8821	broad.mit.edu	37	4	143007365	143007365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:143007365C>A	uc003iix.3	-	25	3014	c.2419G>T	c.(2419-2421)GAA>TAA	p.E807*	INPP4B_uc003iiw.3_Nonsense_Mutation_p.E807*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.E622*|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	807					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					AGGAGATTTTCTAGCAATGCT	0.328			NA											9	38					2.17888e-05	2.35382e-05	0.006214	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156680962	156680962	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:156680962G>T	uc003ipc.2	+	2	194	c.27G>T	c.(25-27)CTG>CTT	p.L9L	GUCY1B3_uc011cio.1_Silent_p.L9L|GUCY1B3_uc011cip.1_5'UTR|GUCY1B3_uc003ipd.2_Intron|GUCY1B3_uc010iqf.2_Silent_p.L9L|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	9					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ATCACGCCCTGGAGTTGCTGG	0.637			NA											10	35					1.58986e-06	1.76255e-06	0.008291	1	0
NIPBL	25836	broad.mit.edu	37	5	37063937	37063937	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:37063937G>A	uc003jkl.3	+	46	8405	c.7906G>A	c.(7906-7908)GAA>AAA	p.E2636K	NIPBL_uc003jkk.3_Missense_Mutation_p.E2636K|NIPBL_uc003jkn.2_Missense_Mutation_p.E329K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAGAAGAAGAAGGGGAGGT	0.388			NA											11	27					0	0	0.010729	0	0
MIER3	166968	broad.mit.edu	37	5	56219601	56219601	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:56219601G>A	uc003jrd.1	-	12	1137	c.1112C>T	c.(1111-1113)TCA>TTA	p.S371L	MIER3_uc003jqz.1_Missense_Mutation_p.S308L|MIER3_uc003jra.1_Missense_Mutation_p.S370L|MIER3_uc003jrb.1_Missense_Mutation_p.S195L|MIER3_uc003jrc.1_Missense_Mutation_p.S376L	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AGTTAAGGCTGAAGCATTTAC	0.408			NA											21	95					0	0	0.012319	0	0
FAM151B	167555	broad.mit.edu	37	5	79817926	79817926	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:79817926C>G	uc003kgv.1	+	5	783	c.640C>G	c.(640-642)CAG>GAG	p.Q214E	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	214											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GTCTTGTTCTCAGTTACTTTG	0.378			NA											3	58					0	0	0.004672	0	0
GPR98	84059	broad.mit.edu	37	5	90015943	90015943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:90015943G>T	uc003kju.2	+	44	9622	c.9526G>T	c.(9526-9528)GGA>TGA	p.G3176*	GPR98_uc003kjt.2_Nonsense_Mutation_p.G882*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G776*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3176	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATCCAACTGGAGGTGCTAG	0.408			NA											6	105					3.59834e-05	3.81759e-05	0.001168	1	0
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:102432327C>T	uc003koa.1	-	7	1294	c.1212G>A	c.(1210-1212)CTG>CTA	p.L404L	GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	404					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413			NA											5	175					0	0	0.014758	0	0
MEGF10	84466	broad.mit.edu	37	5	126770413	126770413	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:126770413C>A	uc003kuh.3	+	16	2237	c.1875C>A	c.(1873-1875)AGC>AGA	p.S625R	MEGF10_uc003kui.3_Missense_Mutation_p.S625R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	625	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATCGCTGCAGCCAGACATGCC	0.567			NA											8	45					2.17888e-05	2.35382e-05	0.006214	1	0
SLC12A2	6558	broad.mit.edu	37	5	127503468	127503468	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:127503468C>T	uc003kus.2	+	18	2796	c.2632C>T	c.(2632-2634)CGT>TGT	p.R878C	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.R878C|SLC12A2_uc003kut.1_Missense_Mutation_p.R85C	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	878	Extracellular (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGTCTTGGTCGTATGAAGCC	0.333			NA											7	46					0	0	0.00308	0	0
FBN2	2201	broad.mit.edu	37	5	127595242	127595242	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:127595242C>T	uc003kuu.2	-	65	9083	c.8644G>A	c.(8644-8646)GAG>AAG	p.E2882K		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2882					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTTAAGCTCCTTCTTCTTG	0.502			NA											5	125					0	0	0.001168	0	0
PCDH1	5097	broad.mit.edu	37	5	141248806	141248806	+	Silent	SNP	G	G	A	rs113157473		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:141248806G>A	uc003llq.2	-	2	348	c.231C>T	c.(229-231)CTC>CTT	p.L77L	PCDH1_uc003llp.2_Silent_p.L77L|PCDH1_uc011dbf.1_Silent_p.L55L	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	77	Extracellular (Potential).|Cadherin 1.				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)		AGTCGGCTGCGAGGCTCCCAA	0.597	Ovarian(132;1609 1739 4190 14731 45037)		NA											6	24					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150885619	150885619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:150885619G>T	uc003lue.3	-	23	12570	c.12557C>A	c.(12556-12558)TCC>TAC	p.S4186Y	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.S793Y	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4186	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTCCTGGAGTAAGTAGG	0.607			NA											44	123					6.4771e-29	8.59741e-29	0.010771	1	0
ITK	3702	broad.mit.edu	37	5	156672899	156672899	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:156672899T>A	uc003lwo.1	+	15	1605	c.1523T>A	c.(1522-1524)CTG>CAG	p.L508Q		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	508	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTCGTTCTGGATGATCAG	0.537	Esophageal Squamous(70;1378 1469 8785 19883)		NA	T	SYK	peripheral T-cell lymphoma								33	62					0	0	0.009535	0	0
ODZ2	57451	broad.mit.edu	37	5	167673932	167673932	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:167673932C>T	uc010jjd.2	+	27	5961	c.5961C>T	c.(5959-5961)GTC>GTT	p.V1987V	ODZ2_uc003lzr.3_Silent_p.V1757V|ODZ2_uc003lzt.3_Silent_p.V1360V|ODZ2_uc010jje.2_Silent_p.V1251V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ATGCTTCGGTCATCTTTGACT	0.537			NA											6	143					0	0	0.001168	0	0
WWC1	23286	broad.mit.edu	37	5	167855100	167855100	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:167855100G>A	uc003lzu.2	+	12	1966	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	WWC1_uc003lzv.2_Missense_Mutation_p.E625K|WWC1_uc011den.1_Missense_Mutation_p.E625K|WWC1_uc003lzw.2_Missense_Mutation_p.E424K	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	625					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGTATCGGACGAGTCAGTGGC	0.577			NA											8	22					0	0	0.006214	0	0
TRIM41	90933	broad.mit.edu	37	5	180660418	180660418	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:180660418C>T	uc003mne.1	+	4	1840	c.1146C>T	c.(1144-1146)ATC>ATT	p.I382I	uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.I382I|TRIM41_uc003mnf.1_Intron|TRIM41_uc010jlq.1_3'UTR|TRIM41_uc003mng.1_5'UTR	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	382						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGACATCAAGGAGACTT	0.433			NA											25	223					0	0	0.008361	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043780	26043780	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:26043780C>T	uc003nfu.2	-	1	106	c.106G>A	c.(106-108)GAG>AAG	p.E36K	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	36					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GAATAGCTCTCCTTGCGGCTG	0.507			NA											49	183					0	0	0.01441	0	0
PGBD1	84547	broad.mit.edu	37	6	28268747	28268747	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:28268747G>C	uc003nky.2	+	7	1486	c.1116G>C	c.(1114-1116)GAG>GAC	p.E372D	PGBD1_uc003nkz.2_Missense_Mutation_p.E372D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	372					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATGAGCCTGAGATCCAGCCTG	0.443			NA											10	77					0	0	0.006214	0	0
C6orf47	57827	broad.mit.edu	37	6	31627555	31627555	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:31627555T>G	uc003nvm.1	-	1	995	c.170A>C	c.(169-171)AAG>ACG	p.K57T		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	57										ovary(1)	1						GTCCTTAGTCTTGGGATGCCC	0.567			NA											9	46					0	0	0.008291	0	0
KIFC1	3833	broad.mit.edu	37	6	33373211	33373211	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:33373211G>C	uc003oef.3	+	7	1789	c.1339G>C	c.(1339-1341)GAG>CAG	p.E447Q	KIFC1_uc011drf.1_Missense_Mutation_p.E439Q	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	447	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						TGTGGCTCAGGAGCTGAGTGG	0.617			NA											5	49					0	0	0.014758	0	0
KIFC1	3833	broad.mit.edu	37	6	33374114	33374114	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:33374114C>T	uc003oef.3	+	8	2128	c.1678C>T	c.(1678-1680)CCC>TCC	p.P560S	KIFC1_uc011drf.1_Missense_Mutation_p.P552S	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	560	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						GTGTGGGGCCCCCCTCAGTCT	0.642			NA											64	187					0	0	0.01441	0	0
SNRPC	6631	broad.mit.edu	37	6	34741263	34741263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:34741263G>T	uc003ojt.1	+	6	411	c.396G>T	c.(394-396)ATG>ATT	p.M132I		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	132					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						ATATGCCAATGATGCCTGGGC	0.557	NSCLC(131;576 1831 5287 11175 13324)		NA											6	56					3.59834e-05	3.81759e-05	0.001168	1	0
FAM83B	222584	broad.mit.edu	37	6	54805720	54805720	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:54805720C>G	uc003pck.2	+	5	2067	c.1951C>G	c.(1951-1953)CTA>GTA	p.L651V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	651										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GACAGAAAATCTAAAGAATCA	0.338			NA											9	54					0	0	0.006214	0	0
LACE1	246269	broad.mit.edu	37	6	108843517	108843517	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:108843517C>G	uc003psj.2	+	13	1521	c.1335C>G	c.(1333-1335)CTC>CTG	p.L445L		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	445							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CAGAAGGACTCTCCATGTTTA	0.358			NA											3	51					0	0	0.004672	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787446	109787446	+	Missense_Mutation	SNP	C	C	A	rs144754453	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:109787446C>A	uc003ptl.1	-	7	1870	c.1702G>T	c.(1702-1704)GGT>TGT	p.G568C	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.G512C|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGCTAGGACCGGGCATGAAA	0.488			NA											29	67					4.59853e-10	5.31705e-10	0.005443	1	0
GPR6	2830	broad.mit.edu	37	6	110301347	110301347	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:110301347C>T	uc011eaw.1	+	2	1212	c.1032C>T	c.(1030-1032)CTC>CTT	p.L344L	GPR6_uc011eav.1_Silent_p.L359L|GPR6_uc003ptu.2_Silent_p.L344L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	344	Cytoplasmic (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGCTCCTGCTCTGTGGCTGTT	0.597			NA											37	139					0	0	0.005524	0	0
TAAR1	134864	broad.mit.edu	37	6	132966648	132966648	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:132966648G>A	uc003qdm.1	-	1	495	c.495C>T	c.(493-495)TTC>TTT	p.F165F		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	165	Extracellular (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CAGCGCCTTTGAAGTTTAGCT	0.388			NA											7	52					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152668295	152668295	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:152668295G>T	uc010kiw.2	-	73	12579	c.11977C>A	c.(11977-11979)CAA>AAA	p.Q3993K	SYNE1_uc003qot.3_Missense_Mutation_p.Q3922K|SYNE1_uc003qou.3_Missense_Mutation_p.Q3993K|SYNE1_uc010kja.1_Missense_Mutation_p.Q698K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3993	Spectrin 10.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCACATTGGCCAATCAAA	0.448			NA								HNSCC(10;0.0054)			12	29					3.07112e-06	3.37937e-06	0.010729	1	0
UNC93A	54346	broad.mit.edu	37	6	167728877	167728877	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:167728877C>G	uc003qvq.2	+	8	1486	c.1311C>G	c.(1309-1311)ATC>ATG	p.I437M	UNC93A_uc003qvr.2_Missense_Mutation_p.I395M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	437						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAACCCGATCAGACCCCACG	0.537			NA											46	217					0	0	0.013114	0	0
IL6	3569	broad.mit.edu	37	7	22766891	22766891	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:22766891T>G	uc011jyn.1	+	2	469	c.10T>G	c.(10-12)TTC>GTC	p.F4V	uc010kun.1_Intron|IL6_uc011jyo.1_Missense_Mutation_p.F4V|IL6_uc011jyp.1_5'UTR|IL6_uc003svj.3_Missense_Mutation_p.F4V|IL6_uc011jyq.1_Missense_Mutation_p.F4V	NM_000600	NP_000591	P05231	IL6_HUMAN	interleukin 6 precursor	4					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding				0					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TATGAACTCCTTCTCCACAAG	0.597	Esophageal Squamous(47;342 1214 13936 33513)		NA									OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	0.007413	0	0
AOAH	313	broad.mit.edu	37	7	36713594	36713594	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:36713594T>C	uc003tfh.3	-	3	645	c.244A>G	c.(244-246)ACC>GCC	p.T82A	AOAH_uc010kxf.2_Missense_Mutation_p.T82A|AOAH_uc011kba.1_Missense_Mutation_p.T50A	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	82	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						AAATAGCAGGTGGTTTTCAAG	0.333			NA											8	18					0	0	0.00308	0	0
ADCY1	107	broad.mit.edu	37	7	45632476	45632476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:45632476G>T	uc003tne.3	+	2	776	c.758G>T	c.(757-759)CGA>CTA	p.R253L	ADCY1_uc003tnd.2_Missense_Mutation_p.R28L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	253	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGAGGACCGACTGAGGCTG	0.592			NA											33	50					9.78485e-24	1.27031e-23	0.013726	1	0
POM121L12	285877	broad.mit.edu	37	7	53104099	53104099	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:53104099C>T	uc003tpz.2	+	1	751	c.735C>T	c.(733-735)CTC>CTT	p.L245L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	245											0						CCTGGAGCCTCAGTTTTTGTG	0.647			NA											17	67					0	0	0.006122	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280063	73280063	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:73280063G>C	uc003tzk.2	+	3	694	c.658G>C	c.(658-660)GAG>CAG	p.E220Q	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.E119Q	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	220						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				GGCTGCCTTTGAGCACACGAC	0.632			NA											30	233					0	0	0.00632	0	0
SMURF1	57154	broad.mit.edu	37	7	98655126	98655126	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:98655126C>G	uc003upu.1	-	4	572	c.252G>C	c.(250-252)AAG>AAC	p.K84N	SMURF1_uc003upv.1_Missense_Mutation_p.K84N|SMURF1_uc003upt.2_Missense_Mutation_p.K84N	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	84	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGTGAATTTTCTTATGGTTCC	0.403			NA											9	59					0	0	0.004482	0	0
SLC26A4	5172	broad.mit.edu	37	7	107342395	107342395	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:107342395G>C	uc003vep.2	+	17	2151	c.1927G>C	c.(1927-1929)GAG>CAG	p.E643Q	SLC26A4_uc011kmb.1_Missense_Mutation_p.E230Q|SLC26A4_uc011kmc.1_Missense_Mutation_p.E204Q|SLC26A4_uc011kmd.1_Missense_Mutation_p.E212Q	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	643	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TTGGAACTCTGAGCTTCCAGT	0.428			NA							Pendred_syndrome				6	56					0	0	0.001168	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635339	122635339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:122635339C>T	uc003vkl.1	-	1	416	c.350G>A	c.(349-351)TGG>TAG	p.W117*		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	117	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						CCACCTCAGCCAGAGAAAGAT	0.398			NA											7	34					0	0	0.001984	0	0
SLC37A3	84255	broad.mit.edu	37	7	140043315	140043315	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:140043315G>A	uc003vvo.2	-	13	1389	c.1223C>T	c.(1222-1224)GCG>GTG	p.A408V	SLC37A3_uc003vvn.2_Missense_Mutation_p.A8V|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Missense_Mutation_p.A392V	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	408					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					ACCCAAGTCCGCAGAAATAGC	0.453	Esophageal Squamous(133;211 1716 4665 11387 37873)		NA											24	52					0	0	0.014323	0	0
ABCB8	11194	broad.mit.edu	37	7	150730745	150730745	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:150730745G>T	uc003wil.3	+	3	293	c.200G>T	c.(199-201)CGG>CTG	p.R67L	ABCB8_uc003wii.2_Missense_Mutation_p.R87L|ABCB8_uc003wij.3_Missense_Mutation_p.R50L|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.R50L|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.R50L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	67						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACCTGCGGTCCCAGCTC	0.677			NA											20	60					1.01871e-10	1.18716e-10	0.008871	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497705	1497705	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:1497705C>T	uc003wpl.2	+	2	943	c.846C>T	c.(844-846)GAC>GAT	p.D282D	DLGAP2_uc003wpm.2_Silent_p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	361					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647			NA											16	27					0	0	0.003163	0	0
PIWIL2	55124	broad.mit.edu	37	8	22147834	22147834	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:22147834C>T	uc003xbn.2	+	10	1304	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	PIWIL2_uc011kzf.1_Missense_Mutation_p.R386W|PIWIL2_uc010ltv.2_Missense_Mutation_p.R386W	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	386	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAAGGTCATTCGGAATGACTG	0.473			NA											3	22					0	0	0.004672	0	0
PURG	29942	broad.mit.edu	37	8	30889608	30889608	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:30889608C>G	uc003xin.2	-	1	710	c.691G>C	c.(691-693)GAG>CAG	p.E231Q	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E231Q	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	231	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCACGAAACTCAATCATTCCT	0.493			NA											5	81					0	0	0.014758	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606523	82606523	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:82606523C>G	uc011lfs.1	-	1	685	c.685G>C	c.(685-687)GAT>CAT	p.D229H		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	229	Cytoplasmic (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AAATCTCCATCTAGAAGCAGA	0.458			NA											8	164					0	0	0.00308	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104066182	104066182	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:104066182C>T	uc003ykz.3	+	7	789	c.544C>T	c.(544-546)CTC>TTC	p.L182F	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.L107F|ATP6V1C1_uc003yla.2_Missense_Mutation_p.L182F|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.L107F	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTCAGAGTATCTCGTCACATT	0.318			NA											12	65					0	0	0.010729	0	0
TRPS1	7227	broad.mit.edu	37	8	116426349	116426349	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:116426349G>T	uc003ynz.2	-	6	4207	c.3748C>A	c.(3748-3750)CAT>AAT	p.H1250N	TRPS1_uc011lhy.1_Missense_Mutation_p.H1254N|TRPS1_uc003yny.2_Missense_Mutation_p.H1263N|TRPS1_uc010mcy.2_Missense_Mutation_p.H1250N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1250	C2H2-type 7.|Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTGCAAAGATGCTGGCATATG	0.433			NA							Langer-Giedion_syndrome				57	98					2.78941e-39	3.73604e-39	0.01441	1	0
ADCY8	114	broad.mit.edu	37	8	131955663	131955663	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:131955663G>T	uc003ytd.3	-	4	1543	c.1287C>A	c.(1285-1287)ACC>ACA	p.T429T	ADCY8_uc010mds.2_Silent_p.T429T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	429	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGCAGACAAGGTCGTGGAGA	0.453			NA								HNSCC(32;0.087)			5	40					1.23904e-05	1.35334e-05	0.014758	1	0
PLEC	5339	broad.mit.edu	37	8	144992837	144992837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:144992837C>A	uc003zaf.1	-	32	11733	c.11563G>T	c.(11563-11565)GAG>TAG	p.E3855*	PLEC_uc003zab.1_Nonsense_Mutation_p.E3718*|PLEC_uc003zac.1_Nonsense_Mutation_p.E3722*|PLEC_uc003zad.2_Nonsense_Mutation_p.E3718*|PLEC_uc003zae.1_Nonsense_Mutation_p.E3686*|PLEC_uc003zag.1_Nonsense_Mutation_p.E3696*|PLEC_uc003zah.2_Nonsense_Mutation_p.E3704*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E3745*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3855	Globular 2.|Plectin 17.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGGCCACCTCGGCACTCAGC	0.652			NA											19	61					4.96729e-08	5.56939e-08	0.008871	1	0
TAF1L	138474	broad.mit.edu	37	9	32633780	32633780	+	Missense_Mutation	SNP	G	G	A	rs143756087	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:32633780G>A	uc003zrg.1	-	1	1888	c.1798C>T	c.(1798-1800)CGG>TGG	p.R600W	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	600					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGTGCCCCGAAGACCCTGT	0.488			NA											9	213					0	0	0.008291	0	0
FAM75A6	389730	broad.mit.edu	37	9	43630649	43630649	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:43630649G>T	uc011lrb.1	-	1	82	c.53C>A	c.(52-54)GCC>GAC	p.A18D		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	18						integral to membrane					0						GGAGCTGGGGGCGTTTAGCGA	0.478			NA											45	125					9.39024e-22	1.20848e-21	0.009718	1	0
APBA1	320	broad.mit.edu	37	9	72130977	72130977	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:72130977C>A	uc004ahh.2	-	2	1426	c.1150G>T	c.(1150-1152)GAC>TAC	p.D384Y		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	384	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GGGCTAATGTCCTGGCGCATG	0.617			NA											32	100					7.11191e-15	8.84506e-15	0.013726	1	0
SEMA4D	10507	broad.mit.edu	37	9	91994133	91994133	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:91994133G>A	uc004aqo.1	-	18	2647	c.2075C>T	c.(2074-2076)TCC>TTC	p.S692F	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S690F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	692	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GATGGCCCCGGAGGAGGTGGC	0.602			NA											24	86					0	0	0.016522	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900314	101900314	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:101900314C>G	uc004azc.2	+	4	824	c.748C>G	c.(748-750)CAA>GAA	p.Q250E	TGFBR1_uc004azd.2_Missense_Mutation_p.Q173E|TGFBR1_uc011lvc.1_Missense_Mutation_p.Q181E	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	250	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				AGAGATTTATCAAACTGTAAT	0.393			NA											15	51					0	0	0.003163	0	0
C5	727	broad.mit.edu	37	9	123785720	123785720	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:123785720G>A	uc004bkv.2	-	10	1108	c.1078C>T	c.(1078-1080)CCT>TCT	p.P360S	C5_uc010mvm.1_Missense_Mutation_p.P360S|C5_uc010mvn.1_Missense_Mutation_p.P360S	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	360					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGGAAAAGAGGAGTAGCAACC	0.438			NA											13	149					0	0	0.020292	0	0
LAMC3	10319	broad.mit.edu	37	9	133951336	133951336	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:133951336C>T	uc004caa.1	+	21	3711	c.3613C>T	c.(3613-3615)CGG>TGG	p.R1205W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1205	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGACCCAGCGGGACCTGGA	0.632			NA											3	28					0	0	0.004672	0	0
BAT2L1	84726	broad.mit.edu	37	9	134350175	134350175	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:134350175G>C	uc004can.3	+	15	2714	c.2659G>C	c.(2659-2661)GAG>CAG	p.E887Q	BAT2L1_uc010mzj.1_Missense_Mutation_p.E470Q|BAT2L1_uc004cao.3_Missense_Mutation_p.E245Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	887							protein binding				0						CCATGGTGTTGAGCGGGAGAC	0.587			NA											10	31					0	0	0.006214	0	0
LCN8	138307	broad.mit.edu	37	9	139652378	139652378	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:139652378T>G	uc004cjb.1	-	1	354	c.5A>C	c.(4-6)GAG>GCG	p.E2A	LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.E2A	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8	Error:Variant_position_missing_in_Q6JVE9_after_alignment					transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GTCCAGCTCCTCCATGGCTGC	0.687			NA											14	21					0	0	0.003163	0	0
GPR64	10149	broad.mit.edu	37	X	19022898	19022898	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:19022898G>C	uc004cyx.2	-	23	2103	c.1939C>G	c.(1939-1941)CTT>GTT	p.L647V	GPR64_uc004cyy.2_Missense_Mutation_p.L644V|GPR64_uc004cyz.2_Missense_Mutation_p.L633V|GPR64_uc004czb.2_Missense_Mutation_p.L647V|GPR64_uc004czc.2_Missense_Mutation_p.L631V|GPR64_uc004czd.2_Missense_Mutation_p.L623V|GPR64_uc004cze.2_Missense_Mutation_p.L617V|GPR64_uc004czf.2_Missense_Mutation_p.L609V|GPR64_uc004cza.2_Missense_Mutation_p.L625V|GPR64_uc004cyw.2_Missense_Mutation_p.L631V|GPR64_uc010nfj.2_Missense_Mutation_p.L528V	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	647	Helical; Name=1; (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TAGGTTACAAGAGTCACTGAC	0.393			NA											7	112					0	0	0.00308	0	0
KLHL34	257240	broad.mit.edu	37	X	21675838	21675838	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:21675838G>T	uc004czz.1	-	1	611	c.69C>A	c.(67-69)CGC>CGA	p.R23R		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	23										ovary(1)	1						AGCCCTCGGCGCGCAGGGCCT	0.647			NA											13	7					0.000151284	0.000158234	0.016723	1	0
ATRX	546	broad.mit.edu	37	X	76778855	76778855	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:76778855G>C	uc004ecp.3	-	31	6956	c.6724C>G	c.(6724-6726)CAG>GAG	p.Q2242E	ATRX_uc004ecq.3_Missense_Mutation_p.Q2204E|ATRX_uc004eco.3_Missense_Mutation_p.Q2027E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2242					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTATGTATCTGAAGGAGCTCT	0.378			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						3	67					0	0	0.004672	0	0
RGAG1	57529	broad.mit.edu	37	X	109695638	109695638	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:109695638C>G	uc004eor.1	+	3	2039	c.1793C>G	c.(1792-1794)TCA>TGA	p.S598*	RGAG1_uc011msr.1_Nonsense_Mutation_p.S598*	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	598										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GACACAGCCTCAGGAGTGATG	0.502			NA											30	33					0	0	0.008361	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264795	47264796	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:47264795_47264796insCT	uc001cqm.3	+	1	126_127	c.42_43insCT	c.(40-45)GGCCTGfs	p.G14fs	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Frame_Shift_Ins_p.G14fs|CYP4B1_uc009vym.2_Frame_Shift_Ins_p.G14fs|CYP4B1_uc010omk.1_5'UTR	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	14_15					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCTCCTTGGGCCTGTGGGCTTC	0.579			NA											11	35	---	---	---	---	NA	NA	NA	NA	NA
KITLG	4254	broad.mit.edu	37	12	88912534	88912534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:88912534delT	uc001tav.2	-	4	486	c.303delA	c.(301-303)ATAfs	p.I101fs	KITLG_uc009zsn.2_Frame_Shift_Del_p.I29fs|KITLG_uc001taw.2_Frame_Shift_Del_p.I101fs|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	101	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						CAAGTTTGTCTATGATGGAAT	0.368			NA							Testicular_Cancer_Familial_Clustering_of				20	52	---	---	---	---	NA	NA	NA	NA	NA
MYH1	4619	broad.mit.edu	37	17	10408226	10408226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10408226delT	uc002gmo.2	-	22	2686	c.2592delA	c.(2590-2592)AAAfs	p.K864fs	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	864	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CCAGCTCTTCTTTGGTTTTCT	0.438			NA											43	95	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1206999	1207000	+	Frame_Shift_Ins	INS	-	-	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:1206999_1207000insG	uc002lrl.1	+	1	1202_1203	c.87_88insG	c.(85-90)ATCGACfs	p.I29fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	29_30					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(3)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACCGCATCGACTCCACCGA	0.639			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			23	22	---	---	---	---	NA	NA	NA	NA	NA
SYN2	6854	broad.mit.edu	37	3	12209961	12209961	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:12209961delA	uc003bwm.2	+	13	1305	c.1141delA	c.(1141-1143)AAAfs	p.K381fs	SYN2_uc003bwl.1_Frame_Shift_Del_p.K381fs|SYN2_uc003bwn.2_Frame_Shift_Del_p.K55fs	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	381					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						CAAAGATGGGAAAGACTACAT	0.483			NA											7	31	---	---	---	---	NA	NA	NA	NA	NA
SLC22A13	9390	broad.mit.edu	37	3	38315780	38315780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:38315780delT	uc003chz.3	+	2	450	c.396delT	c.(394-396)GATfs	p.D132fs	SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Frame_Shift_Del_p.D132fs	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	132	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGGTTTGTGATCGGAAGCACC	0.572			NA											26	100	---	---	---	---	NA	NA	NA	NA	NA
AMOTL2	51421	broad.mit.edu	37	3	134089682	134089683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:134089682_134089683insA	uc003eqf.2	-	2	884_885	c.767_768insT	c.(766-768)GGCfs	p.G256fs	AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.G198fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.G198fs	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	198										large_intestine(1)	1						CAGCAGGGGGGCCCCTCAGTGG	0.668			NA											28	53	---	---	---	---	NA	NA	NA	NA	NA
NCOA7	135112	broad.mit.edu	37	6	126210672	126210673	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:126210672_126210673insT	uc010kes.2	+	11	1921_1922	c.1472_1473insT	c.(1471-1473)GATfs	p.D491fs	NCOA7_uc003qae.3_Frame_Shift_Ins_p.D491fs|NCOA7_uc003qah.2_Frame_Shift_Ins_p.D480fs|NCOA7_uc003qai.2_Frame_Shift_Ins_p.D491fs|NCOA7_uc010ket.2_Frame_Shift_Ins_p.D376fs	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	491					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGAAGCAAGATATAATGCCAG	0.436			NA											19	34	---	---	---	---	NA	NA	NA	NA	NA
ADAM22	53616	broad.mit.edu	37	7	87772416	87772417	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:87772416_87772417insCA	uc003ujn.2	+	15	1375_1376	c.1296_1297insCA	c.(1294-1299)GCCTGCfs	p.A432fs	ADAM22_uc003ujk.1_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujl.1_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujm.2_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujo.2_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujp.1_Frame_Shift_Ins_p.A484fs	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	432_433	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTGGTGCCTGCCTTTTCAA	0.312			NA											36	105	---	---	---	---	NA	NA	NA	NA	NA
SLC26A7	115111	broad.mit.edu	37	8	92346585	92346585	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:92346585delG	uc003yex.2	+	7	983	c.705delG	c.(703-705)TTGfs	p.L235fs	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.L235fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.L235fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	235	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTTTATCCTTGCTGAGCATTG	0.323			NA											14	61	---	---	---	---	NA	NA	NA	NA	NA
