Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
SPATA21	374955	broad.mit.edu	37	1	16736455	16736455	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16736455C>G	uc001ayn.2	-	6	711	c.228G>C	c.(226-228)CAG>CAC	p.Q76H	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.Q53H	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	76							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCCCGAGGCTCTGTGTCCCTG	0.657		NA											24	63					0	0	0	0
NBPF1	55672	broad.mit.edu	37	1	16914293	16914293	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16914293C>A	uc009vos.1	-	10	1382	c.494_splice	c.e10-1	p.E165_splice	NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCGTCATTTTCTGTAAATACA	0.428		NA											31	495					1.66e-12	2.26e-12	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809211	18809211	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:18809211G>T	uc001bax.2	+	1	1788	c.1736G>T	c.(1735-1737)CGG>CTG	p.R579L	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R361L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	579	Kelch 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGCCCGGCCGCACTGC	0.711		NA											9	21					7.48e-07	9.15e-07	1	0
AIM1L	55057	broad.mit.edu	37	1	26648778	26648778	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:26648778G>A	uc001bmd.3	-	18	2069	c.1639C>T	c.(1639-1641)CCT>TCT	p.P547S		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	547	Ricin B-type lectin.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTGGGCTAGGGGGTCCAATC	0.617		NA											24	65					0	0	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237601	33237601	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:33237601C>G	uc001bvv.2	+	6	2780	c.2644C>G	c.(2644-2646)CTG>GTG	p.L882V	KIAA1522_uc001bvu.1_Missense_Mutation_p.L941V|KIAA1522_uc010ohm.1_Missense_Mutation_p.L893V|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	882	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGCCTGGCCGCCAG	0.682		NA											4	36					0	0	0	0
C1orf94	84970	broad.mit.edu	37	1	34666433	34666433	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:34666433G>T	uc001bxs.3	+	3	899	c.500G>T	c.(499-501)TGG>TTG	p.W167L	C1orf94_uc001bxt.2_Missense_Mutation_p.W357L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	167							protein binding				0		Myeloproliferative disorder(586;0.0393)				CTCAGCCAGTGGCCCCAGAGC	0.587		NA											38	65					3.09e-21	4.53e-21	1	0
EIF2C4	192670	broad.mit.edu	37	1	36298098	36298098	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:36298098G>T	uc001bzj.1	+	11	1496	c.1306G>T	c.(1306-1308)GCT>TCT	p.A436S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	436					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAGTTTTATGCTGGCATTGA	0.333		NA											23	55					1.5e-11	2.02e-11	1	0
PTCH2	8643	broad.mit.edu	37	1	45294273	45294273	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:45294273C>G	uc010olf.1	-	12	1507	c.1495G>C	c.(1495-1497)GGC>CGC	p.G499R	PTCH2_uc010olg.1_Missense_Mutation_p.G197R	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	499	SSD.|Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					ACACTGGTGCCCGTGCGCTGC	0.632		NA							Basal_Cell_Nevus_syndrome				5	14					0	0	0	0
RAD54L	8438	broad.mit.edu	37	1	46726971	46726971	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:46726971C>A	uc009vye.2	+	9	919	c.805C>A	c.(805-807)CCC>ACC	p.P269T	RAD54L_uc001cpl.2_Missense_Mutation_p.P269T|RAD54L_uc001cpm.1_Missense_Mutation_p.P89T	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	269	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGTCTTCTCCCATCCTCAT	0.423		NA						Direct_reversal_of_damage|Homologous_recombination					20	44					0.00152264	0.00168448	1	0
USP24	23358	broad.mit.edu	37	1	55545229	55545229	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:55545229C>A	uc001cyg.3	-	57	6702	c.6702G>T	c.(6700-6702)GGG>GGT	p.G2234G		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2394					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GGTAAGGTTTCCCTTCAGACA	0.433		NA											31	113					7.11e-15	9.95e-15	1	0
C8B	732	broad.mit.edu	37	1	57420405	57420405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:57420405G>A	uc001cyp.2	-	4	554	c.487C>T	c.(487-489)CAG>TAG	p.Q163*	C8B_uc010oon.1_Nonsense_Mutation_p.Q101*|C8B_uc010ooo.1_Nonsense_Mutation_p.Q111*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	163	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ATTTCATGCTGACATTTTTTA	0.443		NA											25	72					0	0	0	0
RAVER2	55225	broad.mit.edu	37	1	65278490	65278490	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:65278490T>C	uc001dbs.1	+	10	1789	c.1711T>C	c.(1711-1713)TAC>CAC	p.Y571H	RAVER2_uc001dbt.1_Missense_Mutation_p.Y463H|RAVER2_uc010opb.1_Missense_Mutation_p.Y296H	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	584						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TAAAAATCCATACTTGAATTT	0.383		NA											8	33					0	0	0	0
WLS	79971	broad.mit.edu	37	1	68613868	68613868	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:68613868G>A	uc001def.1	-	8	1356	c.1085C>T	c.(1084-1086)ACG>ATG	p.T362M	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.T360M|WLS_uc001deg.1_Missense_Mutation_p.T271M|WLS_uc009wbf.1_Missense_Mutation_p.T317M	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	362	Lumenal (Potential).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						GAAGGGATTCGTGAGTTGTAC	0.443		NA											21	75					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75072489	75072489	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:75072489C>A	uc001dgg.2	-	10	1504	c.1285G>T	c.(1285-1287)GGG>TGG	p.G429W	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G223W	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	429	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTCACTTTCCCCTCAGCCTTC	0.403		NA											44	107					2.25e-16	3.21e-16	1	0
MSH4	4438	broad.mit.edu	37	1	76343943	76343943	+	Missense_Mutation	SNP	A	A	G	rs116549128	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76343943A>G	uc001dhd.1	+	11	1521	c.1480A>G	c.(1480-1482)ATA>GTA	p.I494V		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	494					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						GAGGTCTAACATAAATGAATT	0.318		NA						MMR					11	24					0	0	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877998	76877998	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76877998G>A	uc001dhh.2	+	3	682	c.519G>A	c.(517-519)TTG>TTA	p.L173L	ST6GALNAC3_uc001dhg.3_Silent_p.L173L|ST6GALNAC3_uc010orh.1_Silent_p.L108L	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	173	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						ACAACATGTTGAAAAAGACAG	0.393		NA											19	68					0	0	0	0
AK5	26289	broad.mit.edu	37	1	77763626	77763626	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:77763626G>A	uc001dhn.2	+	5	950	c.693G>A	c.(691-693)GAG>GAA	p.E231E	AK5_uc001dho.2_Silent_p.E205E|AK5_uc001dhm.1_Silent_p.E207E	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	231					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						TATCTTTTGAGGACCAAGTAA	0.333		NA											7	28					0	0	0	0
HFM1	164045	broad.mit.edu	37	1	91846506	91846506	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:91846506G>T	uc001doa.3	-	7	936	c.836C>A	c.(835-837)CCA>CAA	p.P279Q	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P279Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	279							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGAAATATGGAAATTCTTT	0.179		NA											7	41					2.18e-05	2.55e-05	1	0
STXBP3	6814	broad.mit.edu	37	1	109315300	109315300	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:109315300A>G	uc001dvy.2	+	7	527	c.452A>G	c.(451-453)GAT>GGT	p.D151G	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	151	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TATACTCTTGATGTACCAGAT	0.308		NA											11	25					0	0	0	0
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111060380G>A	uc001dzt.1	-	1	1418	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	344	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577		NA											45	120					0	0	0	0
KCNA3	3738	broad.mit.edu	37	1	111216792	111216792	+	Missense_Mutation	SNP	G	G	A	rs145190352	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111216792G>A	uc001dzv.1	-	1	864	c.640C>T	c.(640-642)CGC>TGC	p.R214C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAAGTCGCGGCGGGGCAAG	0.687		NA											31	71					0	0	0	0
PTPN22	26191	broad.mit.edu	37	1	114397155	114397155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:114397155C>T	uc001eds.2	-	9	818	c.688G>A	c.(688-690)GGC>AGC	p.G230S	uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.G230S|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G230S|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.G230S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	230	Substrate binding.|Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCACAGCCAGCACTGAAA	0.418		NA											6	29					0	0	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487467	117487467	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117487467C>T	uc001egv.1	+	3	722	c.585C>T	c.(583-585)AGC>AGT	p.S195S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	195	Ig-like C2-type 2.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCAGGCGGAGCGTCCTCGCCC	0.751		NA											4	11					0	0	0	0
CD101	9398	broad.mit.edu	37	1	117560848	117560848	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117560848C>T	uc010oxb.1	+	6	1741	c.1683C>T	c.(1681-1683)TCC>TCT	p.S561S	CD101_uc009whd.2_Silent_p.S561S|CD101_uc010oxc.1_Silent_p.S561S|CD101_uc010oxd.1_Silent_p.S499S	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	561	Extracellular (Potential).|Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TTGACCTGTCCTGTGTCGTGA	0.478		NA											6	37					0	0	0	0
FAM46C	54855	broad.mit.edu	37	1	118165682	118165682	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118165682C>T	uc001ehe.2	+	2	391	c.192C>T	c.(190-192)ATC>ATT	p.I64I		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	64											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAGGCATCAAAGTGCACG	0.552		NA								Multiple Myeloma(3;1.13e-06)			30	80					0	0	0	0
SPAG17	200162	broad.mit.edu	37	1	118624066	118624066	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118624066C>G	uc001ehk.2	-	14	2030	c.1962G>C	c.(1960-1962)ATG>ATC	p.M654I		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	654						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGAGTATTCATTTTCATGA	0.408		NA											20	75					0	0	0	0
NBPF9	400818	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:144220807A>C	uc010oxr.1	+	19	2184	c.2180A>C	c.(2179-2181)GAT>GCT	p.D727A	NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	700	NBPF 5.					cytoplasm					0						GAGCTGCTGGATGAGAAAGAG	0.483		NA											15	104					0	0	0	0
ACP6	51205	broad.mit.edu	37	1	147119326	147119326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:147119326C>G	uc001epr.2	-	10	1650	c.1186G>C	c.(1186-1188)GAC>CAC	p.D396H		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	396					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					AAGAACATGTCCAGCGGGCAG	0.502		NA											22	46					0	0	0	0
TTC24	164118	broad.mit.edu	37	1	156554971	156554971	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:156554971A>G	uc009wsc.1	+	6	704	c.564A>G	c.(562-564)AAA>AAG	p.K188K		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	468							binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAAGAAAAAAGAGGAGAGGT	0.562		NA											18	37					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157555966	157555966	+	Missense_Mutation	SNP	G	G	T	rs150996859		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:157555966G>T	uc001fqw.2	-	6	1263	c.1127C>A	c.(1126-1128)ACT>AAT	p.T376N	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	376	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTCTCACAGTGACATTCAG	0.388		NA											40	85					3.09e-21	4.53e-21	1	0
CD1D	912	broad.mit.edu	37	1	158151871	158151871	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:158151871C>T	uc001frr.2	+	4	877	c.378C>T	c.(376-378)AAC>AAT	p.N126N	CD1D_uc009wsr.1_Silent_p.N126N|CD1D_uc009wss.2_Silent_p.N126N|CD1D_uc009wst.1_Silent_p.N22N	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	126	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					ACCCTGGGAACGCCTCAAATA	0.493		NA											55	169					0	0	0	0
SELE	6401	broad.mit.edu	37	1	169696913	169696913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169696913C>A	uc001ggm.3	-	9	1592	c.1435G>T	c.(1435-1437)GGA>TGA	p.G479*	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	479	Extracellular (Potential).|Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					GTCCATTGTCCCTGAGATGTG	0.428		NA											31	99					9.65e-13	1.32e-12	1	0
ASTN1	460	broad.mit.edu	37	1	176903411	176903411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:176903411C>A	uc001glc.2	-	16	2760	c.2548G>T	c.(2548-2550)GAC>TAC	p.D850Y	ASTN1_uc001glb.1_Missense_Mutation_p.D850Y|ASTN1_uc001gld.1_Missense_Mutation_p.D850Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	858					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CCGAACTGGTCCAACAGCGCC	0.542		NA											26	52					7.34e-06	8.72e-06	1	0
TPR	7175	broad.mit.edu	37	1	186337063	186337063	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:186337063T>C	uc001grv.2	-	4	679	c.382A>G	c.(382-384)ATT>GTT	p.I128V	TPR_uc010pop.1_Missense_Mutation_p.I204V	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	128	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGTTCTAATTAAGTCTCTT	0.323		NA	T	NTRK1	papillary thyroid								10	20					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197070947	197070947	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197070947T>C	uc001gtu.2	-	18	7691	c.7434A>G	c.(7432-7434)CAA>CAG	p.Q2478Q	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q326Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2478	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTTGCATTTCTTGTAACTTCT	0.363		NA											23	88					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197397023	197397023	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197397023A>T	uc001gtz.2	+	7	2703	c.2568A>T	c.(2566-2568)AGA>AGT	p.R856S	CRB1_uc010poz.1_Missense_Mutation_p.R787S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.R744S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.R337S|CRB1_uc001gub.1_Missense_Mutation_p.R505S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	856	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AAGATGTAAGACTAAACAACC	0.408		NA											9	20					0	0	0	0
LHX9	56956	broad.mit.edu	37	1	197896918	197896918	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197896918T>C	uc001guk.1	+	4	1368	c.931T>C	c.(931-933)TTG>CTG	p.L311L	LHX9_uc001gui.1_Silent_p.L302L|LHX9_uc001guj.1_Silent_p.L317L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	311	Homeobox.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAAAAGAGTTTTGCAGGTAAG	0.483		NA											17	63					0	0	0	0
PRELP	5549	broad.mit.edu	37	1	203453274	203453274	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:203453274A>G	uc001gzs.2	+	2	1162	c.962A>G	c.(961-963)AAT>AGT	p.N321S	PRELP_uc001gzt.2_Missense_Mutation_p.N321S	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	321	LRR 10.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCAACAACAATAGCATCGAG	0.572		NA											15	36					0	0	0	0
REN	5972	broad.mit.edu	37	1	204130517	204130517	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204130517G>A	uc001haq.2	-	3	320	c.276C>T	c.(274-276)ATC>ATT	p.I92I		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	92					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGGGTGCCGATGCCAATCT	0.582		NA											6	24					0	0	0	0
KISS1	3814	broad.mit.edu	37	1	204159795	204159795	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204159795G>T	uc001har.2	-	3	388	c.234C>A	c.(232-234)TCC>TCA	p.S78S		NM_002256	NP_002247	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	78					cytoskeleton organization	extracellular region	protein binding			ovary(1)	1	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGGGGCTCCCGGAGCTCTCGG	0.751		NA											5	13					1.02e-07	1.28e-07	1	0
KLHDC8A	55220	broad.mit.edu	37	1	205308834	205308834	+	Missense_Mutation	SNP	G	G	A	rs17853535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205308834G>A	uc001hcf.1	-	3	1047	c.479C>T	c.(478-480)CCC>CTC	p.P160L	KLHDC8A_uc010prg.1_Missense_Mutation_p.P47L|KLHDC8A_uc001hcg.1_Missense_Mutation_p.P160L	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	160	Kelch 4.			P -> H (in Ref. 4; AAH36076).						ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGGCATGGGTGCTAGGGA	0.567		NA											12	50					0	0	0	0
PM20D1	148811	broad.mit.edu	37	1	205797807	205797807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205797807C>G	uc001hdj.2	-	13	1495	c.1450G>C	c.(1450-1452)GAG>CAG	p.E484Q	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	484						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGAATCAACTCAAAGATGAAT	0.512		NA											23	41					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208224624	208224624	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:208224624G>C	uc001hgz.2	-	16	3896	c.3138C>G	c.(3136-3138)ATC>ATG	p.I1046M		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1046	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCTGGCTCGATGCGCTGGA	0.592		NA											9	38					0	0	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415652	210415652	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:210415652A>G	uc001hhy.2	+	4	1220	c.1041A>G	c.(1039-1041)AAA>AAG	p.K347K	SERTAD4_uc009xcw.2_Silent_p.K347K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	347							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAAGTAACAAACTGTGCTGCA	0.358		NA											10	34					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215990367	215990367	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:215990367C>T	uc001hku.1	-	48	9929	c.9542G>A	c.(9541-9543)GGA>GAA	p.G3181E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3181	Extracellular (Potential).|Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGTGTCCACAGATAGA	0.388		NA								HNSCC(13;0.011)			20	65					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216172316	216172316	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:216172316C>A	uc001hku.1	-	34	6957	c.6570G>T	c.(6568-6570)TGG>TGT	p.W2190C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2190	Extracellular (Potential).|Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGACACTCCAAATTGTAA	0.338		NA								HNSCC(13;0.011)			17	55					9.17e-09	1.18e-08	1	0
MIA3	375056	broad.mit.edu	37	1	222803552	222803552	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:222803552G>C	uc001hnl.2	+	4	2999	c.2990G>C	c.(2989-2991)CGT>CCT	p.R997P	MIA3_uc009xea.1_Missense_Mutation_p.R833P	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	997	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CTTGATACTCGTGTGGCTGAA	0.408		NA											32	52					0	0	0	0
PRSS38	339501	broad.mit.edu	37	1	228033818	228033818	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:228033818C>A	uc001hrh.2	+	5	890	c.890C>A	c.(889-891)ACT>AAT	p.T297N		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	297					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						ATCACGCCCACTCCTGCTCAG	0.562		NA											15	69					1.05e-09	1.38e-09	1	0
ACTN2	88	broad.mit.edu	37	1	236914832	236914832	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:236914832G>T	uc001hyf.2	+	15	1923	c.1719G>T	c.(1717-1719)CAG>CAT	p.Q573H	ACTN2_uc001hyg.2_Missense_Mutation_p.Q365H|ACTN2_uc009xgi.1_Missense_Mutation_p.Q573H|ACTN2_uc010pxu.1_Missense_Mutation_p.Q262H|ACTN2_uc001hyh.2_Missense_Mutation_p.Q261H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	573	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAGCGGCAGTCCATCATGG	0.547		NA											26	66					8.58e-18	1.24e-17	1	0
RYR2	6262	broad.mit.edu	37	1	237608741	237608741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237608741G>A	uc001hyl.1	+	14	1331	c.1211G>A	c.(1210-1212)AGT>AAT	p.S404N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	404	Cytoplasmic (By similarity).|MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGGCATAAGTTTGTCGAGA	0.413		NA											28	69					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237780711	237780711	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237780711C>A	uc001hyl.1	+	38	5961	c.5841C>A	c.(5839-5841)GTC>GTA	p.V1947V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1947	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443		NA											16	40					5.01e-05	5.8e-05	1	0
RYR2	6262	broad.mit.edu	37	1	237791164	237791164	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237791164T>G	uc001hyl.1	+	41	6344	c.6224T>G	c.(6223-6225)ATT>AGT	p.I2075S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2075	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCTGTCATTGAAGACCCC	0.493		NA											5	25					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237951287	237951287	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237951287G>A	uc001hyl.1	+	92	13449	c.13329_splice	c.e92-1	p.E4443_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTCATAGGGGAGAAGAT	0.403		NA											5	6					0	0	0	0
ZP4	57829	broad.mit.edu	37	1	238046042	238046042	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:238046042G>T	uc001hym.2	-	11	1495	c.1495C>A	c.(1495-1497)CGT>AGT	p.R499S	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	499	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATACTTACGGAGCTTTTCT	0.403		NA											10	40					1.77e-08	2.25e-08	1	0
FMN2	56776	broad.mit.edu	37	1	240370893	240370893	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240370893C>T	uc010pyd.1	+	5	3006	c.2781C>T	c.(2779-2781)CCC>CCT	p.P927P	FMN2_uc010pye.1_Silent_p.P931P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	927	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCTCTACCCGGAGCAGGCA	0.682		NA											29	103					0	0	0	0
FMN2	56776	broad.mit.edu	37	1	240371006	240371006	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240371006C>A	uc010pyd.1	+	5	3119	c.2894C>A	c.(2893-2895)CCC>CAC	p.P965H	FMN2_uc010pye.1_Missense_Mutation_p.P969H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	965	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGGCATACCCCTTCCTCCC	0.701		NA											21	28					0.000229342	0.000261357	1	0
FH	2271	broad.mit.edu	37	1	241669303	241669303	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:241669303C>A	uc001hyx.2	-	6	936	c.904G>T	c.(904-906)GGC>TGC	p.G302C		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	302					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCACTAACCTGTAAGTGCA	0.388		NA	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				15	31					2.32e-05	2.7e-05	1	0
KIF26B	55083	broad.mit.edu	37	1	245865828	245865828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:245865828C>A	uc001ibf.1	+	15	6687	c.6247C>A	c.(6247-6249)CGC>AGC	p.R2083S		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2083					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACGGAGCGCCTGGAGAG	0.577		NA											22	65					1.97e-08	2.51e-08	1	0
OR2L8	391190	broad.mit.edu	37	1	248112456	248112456	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:248112456G>T	uc001idt.1	+	1	297	c.297G>T	c.(295-297)CAG>CAT	p.Q99H	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGGGATTCAGAGTTTCTTCT	0.428		NA											77	212					2.66e-34	4.01e-34	1	0
OLAH	55301	broad.mit.edu	37	10	15113820	15113820	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:15113820T>A	uc001inu.2	+	7	853	c.599T>A	c.(598-600)CTT>CAT	p.L200H	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.L253H	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	200					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0						AAGGCTGTTCTTTCCTGTGAC	0.343		NA											21	67					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	17127685	17127685	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:17127685T>A	uc001ioo.2	-	16	2073	c.2021A>T	c.(2020-2022)CAG>CTG	p.Q674L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	674	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGTAGTCTGGAGCGGTGG	0.458		NA											26	84					0	0	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687958	27687958	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27687958C>A	uc001itu.2	-	4	1687	c.1569G>T	c.(1567-1569)CTG>CTT	p.L523L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	523	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AGCAAAATAACAGGGTCATTC	0.388		NA											18	69					0.000958276	0.0010696	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702471	27702471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27702471G>A	uc001itu.2	-	1	827	c.709C>T	c.(709-711)CAG>TAG	p.Q237*		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	237					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CGCAGATCCTGCACCGCGCCG	0.617		NA											6	53					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48389293	48389293	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:48389293G>C	uc001jez.2	-	1	1699	c.1585C>G	c.(1585-1587)CCA>GCA	p.P529A		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	529	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CTGTAGCGTGGGCCCGGGAGC	0.667		NA											13	67					0	0	0	0
C10orf72	196740	broad.mit.edu	37	10	50315862	50315863	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50315862_50315863CA>AT	uc001jhf.2	-	2	262_263	c.233_234TG>AT	c.(232-234)ATG>AAT	p.M78N	C10orf72_uc001jhh.2_Missense_Mutation_p.M78N	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	78	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						GGAGCTTGGTCATCTTCACCAT	0.629		NA											7	48					0	0	0	0
CHAT	1103	broad.mit.edu	37	10	50870701	50870701	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50870701G>A	uc001jhz.2	+	14	2003	c.1850G>A	c.(1849-1851)GGG>GAG	p.G617E	CHAT_uc001jhv.1_Missense_Mutation_p.G499E|CHAT_uc001jhx.1_Missense_Mutation_p.G499E|CHAT_uc001jhy.1_Missense_Mutation_p.G499E|CHAT_uc001jia.2_Missense_Mutation_p.G499E|CHAT_uc010qgs.1_Missense_Mutation_p.G499E	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	617					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCATAACAGGGATGGCCATT	0.572		NA											36	84					0	0	0	0
C10orf53	282966	broad.mit.edu	37	10	50916545	50916545	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50916545T>A	uc001jid.1	+	3	416	c.356T>A	c.(355-357)GTA>GAA	p.V119E		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	Error:Variant_position_missing_in_Q8N6V4_after_alignment											0		all_neural(218;0.107)				acttgtactgtattggcccag	0		NA											61	165					0	0	0	0
OGDHL	55753	broad.mit.edu	37	10	50964873	50964873	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50964873G>T	uc001jie.2	-	3	466	c.324C>A	c.(322-324)AGC>AGA	p.S108R	OGDHL_uc009xog.2_Missense_Mutation_p.S135R|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	108					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CCACCAATTTGCTGGTCTTGG	0.632		NA											28	46					3.65e-15	5.12e-15	1	0
AGAP6	414189	broad.mit.edu	37	10	51768720	51768720	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:51768720G>A	uc001jix.3	+	8	1233	c.835G>A	c.(835-837)GGT>AGT	p.G279S		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	279					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						CATCGGGAGCGGTAGAGCCAT	0.512		NA											71	339					0	0	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70962202	70962202	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:70962202G>A	uc001jpe.1	+	12	1581	c.1526G>A	c.(1525-1527)GGT>GAT	p.G509D	SUPV3L1_uc010qjd.1_Missense_Mutation_p.G378D	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	509	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						AAGGCAGCTGGTCTTCATCCA	0.363		NA											31	59					0	0	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372067	81372067	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:81372067G>T	uc001kap.2	+	4	294	c.173_splice	c.e4-1	p.G58_splice	SFTPA1_uc001kaq.2_Splice_Site_p.G58_splice|SFTPA1_uc009xry.2_Splice_Site_p.G73_splice|SFTPA1_uc001kar.2_Splice_Site_p.G58_splice|SFTPA1_uc010qlt.1_Splice_Site|SFTPA1_uc009xrz.2_Intron|SFTPA1_uc009xsa.2_Splice_Site_p.G58_splice|SFTPA1_uc009xsf.2_5'Flank	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	surfactant protein A1 isoform 1						cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTTCTCTGCAGGCCCCATGGG	0.567		NA											100	264					7.59e-44	1.15e-43	1	0
MINPP1	9562	broad.mit.edu	37	10	89264702	89264702	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:89264702G>T	uc001keu.2	+	1	480	c.30G>T	c.(28-30)CGG>CGT	p.R10R	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Silent_p.R10R	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	10					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCTCCTCCGGACCTCCGTAG	0.731		NA											6	23					0.00116845	0.00129608	1	0
FAS	355	broad.mit.edu	37	10	90768682	90768682	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:90768682A>G	uc001kfr.2	+	4	717	c.371A>G	c.(370-372)AAT>AGT	p.N124S	FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.N124S|FAS_uc001kft.2_Missense_Mutation_p.N124S|FAS_uc010qnb.1_Intron|FAS_uc010qnc.1_Intron|FAS_uc001kfw.2_Intron|FAS_uc010qnd.1_Intron|FAS_uc010qne.1_Intron|FAS_uc009xtp.2_RNA	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	124	Extracellular (Potential).|TNFR-Cys 2.				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)|breast(1)	2		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CGGACCCAGAATACCAAGTGC	0.363		NA							Autoimmune_Lymphoproliferative_syndrome_type_I				136	359					0	0	0	0
LOXL4	84171	broad.mit.edu	37	10	100012126	100012126	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:100012126G>A	uc001kpa.1	-	12	2086	c.1935C>T	c.(1933-1935)GAC>GAT	p.D645D		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	645	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAGTTTGTGTCCTCCAGAC	0.537		NA											47	111					0	0	0	0
FAM178A	55719	broad.mit.edu	37	10	102684054	102684054	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:102684054G>A	uc001krt.3	+	5	1838	c.1296G>A	c.(1294-1296)AAG>AAA	p.K432K	FAM178A_uc001krr.1_Silent_p.K432K|FAM178A_uc001krs.2_Silent_p.K432K|FAM178A_uc001kru.1_Silent_p.K367K	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	432											0						CAGGTACCAAGGAGACTAAGA	0.443		NA											50	139					0	0	0	0
C10orf79	80217	broad.mit.edu	37	10	105948147	105948147	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:105948147T>C	uc001kxw.2	-	13	1684	c.1568A>G	c.(1567-1569)CAG>CGG	p.Q523R	C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.Q524R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	523											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TGTGGATATCTGTAAAATGTC	0.408		NA											19	44					0	0	0	0
NRAP	4892	broad.mit.edu	37	10	115381802	115381802	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:115381802C>A	uc001laj.2	-	24	2759	c.2595G>T	c.(2593-2595)GAG>GAT	p.E865D	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.E830D|NRAP_uc001lal.3_Missense_Mutation_p.E865D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	865	Nebulin 21.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTGGTGTCCTCGAATCCCT	0.532		NA											35	66					4.63e-21	6.77e-21	1	0
ATRNL1	26033	broad.mit.edu	37	10	116975564	116975564	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:116975564G>A	uc001lcg.2	+	9	1844	c.1458G>A	c.(1456-1458)GGG>GGA	p.G486G		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	486	Kelch 4.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCATGGAGGGTATAAAGCAT	0.353		NA											10	24					0	0	0	0
FAM24A	118670	broad.mit.edu	37	10	124672281	124672281	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:124672281T>A	uc001lgv.2	+	3	250	c.129T>A	c.(127-129)GCT>GCA	p.A43A		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	43						extracellular region				ovary(2)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCTTAAGAGCTGCAAAGGACC	0.473		NA											29	66					0	0	0	0
C10orf137	26098	broad.mit.edu	37	10	127411642	127411642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:127411642G>A	uc001liq.1	+	3	616	c.323G>A	c.(322-324)GGC>GAC	p.G108D	C10orf137_uc001lin.2_Missense_Mutation_p.G108D|C10orf137_uc001lio.1_Missense_Mutation_p.G108D|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTAGCTTTGGCATGGCATAT	0.328		NA											36	130					0	0	0	0
TCERG1L	256536	broad.mit.edu	37	10	132965138	132965138	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:132965138T>C	uc001lkp.2	-	5	953	c.867A>G	c.(865-867)ACA>ACG	p.T289T	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	289										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGCCCCGCTCTGTCCTTGTAT	0.527		NA											7	32					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135012588	135012588	+	Missense_Mutation	SNP	G	G	T	rs113826287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135012588G>T	uc001llz.1	+	14	2577	c.2576G>T	c.(2575-2577)AGT>ATT	p.S859I	KNDC1_uc001lma.1_Missense_Mutation_p.S794I|KNDC1_uc001lmb.1_Missense_Mutation_p.S271I	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	859	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GATGACCAGAGTCCAGACAGT	0.736		NA											11	18					4.69e-08	5.91e-08	1	0
KNDC1	85442	broad.mit.edu	37	10	135024220	135024220	+	Silent	SNP	G	G	T	rs144385432		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135024220G>T	uc001llz.1	+	21	3901	c.3900G>T	c.(3898-3900)ACG>ACT	p.T1300T		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1300	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAACAGCACGCTGACCAGGT	0.612		NA											36	112					9.89e-21	1.44e-20	1	0
OR51A2	401667	broad.mit.edu	37	11	4976784	4976784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:4976784C>A	uc010qyt.1	-	1	160	c.160G>T	c.(160-162)GAG>TAG	p.E54*		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGAGGGCTCTGTCTTGATG	0.428		NA											20	22					2.89e-11	3.88e-11	1	0
OR52A1	23538	broad.mit.edu	37	11	5173083	5173083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5173083G>A	uc010qyy.1	-	1	517	c.517C>T	c.(517-519)CAC>TAC	p.H173Y		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	173	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTTGTGTGATAAAATTGA	0.443		NA											31	55					0	0	0	0
OR51B5	282763	broad.mit.edu	37	11	5364443	5364443	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5364443T>A	uc001map.1	-	1	312	c.312A>T	c.(310-312)TCA>TCT	p.S104S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.S104S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGAAAGTGAGTGTATAA	0.507		NA											14	49					0	0	0	0
OR51I2	390064	broad.mit.edu	37	11	5474910	5474910	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5474910C>A	uc010qzf.1	+	1	192	c.192C>A	c.(190-192)TCC>TCA	p.S64S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTGTCCATGTTGTCCT	0.547		NA											33	85					9.65e-13	1.32e-12	1	0
OR52H1	390067	broad.mit.edu	37	11	5566075	5566075	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5566075C>T	uc010qzh.1	-	1	679	c.679G>A	c.(679-681)GCA>ACA	p.A227T	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGTGTGCGTAGGAAACA	0.498		NA											16	44					0	0	0	0
OR56A5	390084	broad.mit.edu	37	11	5989134	5989134	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5989134C>T	uc010qzu.1	-	1	591	c.591G>A	c.(589-591)TTG>TTA	p.L197L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	197	Extracellular (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTCTGATTCAAGGTGATGT	0.418		NA											3	7					0	0	0	0
OR10A6	390093	broad.mit.edu	37	11	7949914	7949914	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:7949914G>T	uc010rbh.1	-	1	296	c.296C>A	c.(295-297)GCA>GAA	p.A99E		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACATCTGTGCAAAACAGCC	0.428		NA											21	59					2.32e-17	3.34e-17	1	0
BBOX1	8424	broad.mit.edu	37	11	27147273	27147273	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27147273T>A	uc001mre.1	+	8	1277	c.909T>A	c.(907-909)CCT>CCA	p.P303P	BBOX1_uc009yih.1_Silent_p.P303P|BBOX1_uc001mrg.1_Silent_p.P303P	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	303					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	ttgatgtgcctgttgaaagag	0.154		NA											3	12					0	0	0	0
CCDC34	91057	broad.mit.edu	37	11	27379017	27379017	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27379017G>C	uc001mrh.1	-	2	485	c.431C>G	c.(430-432)CCA>CGA	p.P144R	CCDC34_uc001mri.1_Missense_Mutation_p.P144R	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	144											0						CACCTCCCATGGTGTCAGGCG	0.418		NA											34	61					0	0	0	0
TCP11L1	55346	broad.mit.edu	37	11	33094117	33094117	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:33094117G>A	uc001mud.2	+	10	1825	c.1425G>A	c.(1423-1425)GAG>GAA	p.E475E	TCP11L1_uc009yju.2_Silent_p.E290E|TCP11L1_uc010rei.1_Silent_p.E475E|TCP11L1_uc001mue.2_Silent_p.E475E|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	475											0						TTCAGAGAGAGCTGGAGGAAG	0.493		NA											47	124					0	0	0	0
PDHX	8050	broad.mit.edu	37	11	34988233	34988233	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:34988233G>A	uc001mvt.2	+	6	1214	c.688G>A	c.(688-690)GAG>AAG	p.E230K	PDHX_uc010rep.1_Missense_Mutation_p.E215K|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	230					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAGATTACCGAGTCCAGACC	0.502		NA											47	86					0	0	0	0
PAMR1	25891	broad.mit.edu	37	11	35463127	35463127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:35463127G>C	uc001mwg.2	-	7	978	c.935C>G	c.(934-936)TCT>TGT	p.S312C	PAMR1_uc001mwf.2_Missense_Mutation_p.S329C|PAMR1_uc010rew.1_Missense_Mutation_p.S201C|PAMR1_uc010rex.1_Missense_Mutation_p.S272C	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	312	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACAAAAGAAAGACACCACGGT	0.493		NA											37	99					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137641	40137641	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:40137641G>C	uc001mxa.1	-	2	2166	c.202C>G	c.(202-204)CGT>GGT	p.R68G	LRRC4C_uc001mxc.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxd.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxb.1_Missense_Mutation_p.R64G	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	68	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGAACCTCACGCAGGTTTTTC	0.527		NA											20	47					0	0	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47197400	47197400	+	Splice_Site	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47197400A>T	uc001ndt.2	-	3	279	c.264_splice	c.e3+1	p.A88_splice	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndu.2_Splice_Site_p.A88_splice|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndv.1_Missense_Mutation_p.V89E	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating						protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						AAGGAGCTTTACCGCATTGGC	0.537		NA											9	34					0	0	0	0
MADD	8567	broad.mit.edu	37	11	47311587	47311587	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47311587G>T	uc001ner.1	+	18	3177	c.2986G>T	c.(2986-2988)GAC>TAC	p.D996Y	MADD_uc001neq.2_Missense_Mutation_p.D976Y|MADD_uc001nev.1_Missense_Mutation_p.D933Y|MADD_uc001nes.1_Missense_Mutation_p.D953Y|MADD_uc001net.1_Missense_Mutation_p.D996Y|MADD_uc009yln.1_Missense_Mutation_p.D933Y|MADD_uc001neu.1_Missense_Mutation_p.D933Y|MADD_uc001nex.2_Missense_Mutation_p.D996Y|MADD_uc001nez.2_Missense_Mutation_p.D933Y|MADD_uc001new.2_Missense_Mutation_p.D976Y|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	996					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGCCCGGCAGGACATCATCCC	0.587		NA											18	49					5.39e-06	6.43e-06	1	0
OR5L1	219437	broad.mit.edu	37	11	55579097	55579097	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55579097G>T	uc001nhw.1	+	1	155	c.155G>T	c.(154-156)AGC>ATC	p.S52I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.478		NA											84	230					1.33e-51	2.02e-51	1	0
SPRYD5	84767	broad.mit.edu	37	11	55653180	55653180	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55653180A>T	uc010rip.1	+	2	368	c.276A>T	c.(274-276)ATA>ATT	p.I92I	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	92	B box-type.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				AGGAGCAAATATGTGGGATGC	0.493		NA											6	24					0	0	0	0
CTNND1	1500	broad.mit.edu	37	11	57559055	57559055	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57559055C>G	uc001nmc.3	+	3	676	c.105C>G	c.(103-105)CGC>CGG	p.R35R	CTNND1_uc001nlf.1_Silent_p.R35R|CTNND1_uc001nlh.1_Silent_p.R35R|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Silent_p.R35R|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Silent_p.R35R|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.R35R|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Silent_p.R35R|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Silent_p.R35R|CTNND1_uc001nli.3_Silent_p.R35R|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	35	Potential.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AGGAACGGCGCCACGTCTCGG	0.637		NA											9	30					0	0	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799217	57799217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57799217C>A	uc010rjz.1	+	1	793	c.793C>A	c.(793-795)CAG>AAG	p.Q265K	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	265	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)				TATGTATGTCCAGACCAAGGT	0.502		NA											52	147					1.11e-26	1.65e-26	1	0
DTX4	23220	broad.mit.edu	37	11	58972335	58972335	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:58972335G>A	uc001nns.2	+	9	2070	c.1813G>A	c.(1813-1815)GCT>ACT	p.A605T	DTX4_uc001nnr.2_Missense_Mutation_p.A499T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	605					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				GGCTGAACTGGCTGCCCAGGG	0.552		NA											4	13					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62297619	62297619	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62297619C>G	uc001ntl.2	-	5	4570	c.4270G>C	c.(4270-4272)GAT>CAT	p.D1424H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1424					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATATTCACATCTGGAACTTCA	0.468		NA											81	228					0	0	0	0
GANAB	23193	broad.mit.edu	37	11	62393907	62393907	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62393907C>T	uc001nub.2	-	22	2557	c.2524G>A	c.(2524-2526)GGA>AGA	p.G842R	GANAB_uc001ntz.2_Missense_Mutation_p.G29R|GANAB_uc001nua.2_Missense_Mutation_p.G864R|GANAB_uc001nuc.2_Missense_Mutation_p.G745R|GANAB_uc010rma.1_Missense_Mutation_p.G750R|GANAB_uc010rmb.1_Missense_Mutation_p.G728R	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	842					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						AAGAGCTCTCCTTGAGCTGTA	0.557		NA											20	50					0	0	0	0
SYVN1	84447	broad.mit.edu	37	11	64898172	64898172	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:64898172A>G	uc001odb.2	-	11	1159	c.1065T>C	c.(1063-1065)CCT>CCC	p.P355P	SYVN1_uc001odc.2_Silent_p.P355P|SYVN1_uc009yqc.2_Silent_p.P304P	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	355	Pro-rich.|Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						GGTGGGGGGCAGGGGGTGGCC	0.672		NA											3	18					0	0	0	0
KCNK7	10089	broad.mit.edu	37	11	65360635	65360635	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65360635G>C	uc001oes.2	-	3	989	c.765C>G	c.(763-765)ACC>ACG	p.T255T	KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	255	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GCTCAGAGAAGGTCTCCACTG	0.612		NA											6	20					0	0	0	0
RELA	5970	broad.mit.edu	37	11	65421990	65421990	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65421990T>A	uc001ofg.2	-	11	1655	c.1515A>T	c.(1513-1515)ACA>ACT	p.T505T	RELA_uc001ofh.2_Silent_p.T502T|RELA_uc010ron.1_Silent_p.T516T|RELA_uc009yqr.2_Silent_p.T452T|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	505					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TCTGGGCCCCTGTCACTAGGC	0.632		NA											17	42					0	0	0	0
ACY3	91703	broad.mit.edu	37	11	67414349	67414349	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67414349C>G	uc001omq.2	-	3	337	c.166G>C	c.(166-168)GCA>CCA	p.A56P		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	56					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	GATGTGGCTGCCGGGTTGGCC	0.657		NA											4	19					0	0	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926430	67926430	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67926430C>T	uc001onm.1	-	11	1639	c.1383G>A	c.(1381-1383)CTG>CTA	p.L461L	SUV420H1_uc009yse.1_Silent_p.L47L|SUV420H1_uc001onn.1_Silent_p.L289L|SUV420H1_uc009ysf.2_Silent_p.L221L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TCTTTTGCTCCAGCCGCTTGC	0.348		NA											16	69					0	0	0	0
EED	8726	broad.mit.edu	37	11	85977217	85977217	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:85977217A>T	uc001pbp.2	+	8	1276	c.819A>T	c.(817-819)GCA>GCT	p.A273A	EED_uc010rtm.1_Silent_p.A273A|EED_uc001pbq.2_Silent_p.A273A|EED_uc001pbr.2_Silent_p.A273A|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	273	Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TGATGAATGCAATTAAGGAAT	0.299		NA											24	91					0	0	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402587	89402587	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:89402587C>T	uc001pda.2	+	3	537	c.11C>T	c.(10-12)TCA>TTA	p.S4L		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	4					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ATGGGTGGCTCAGCACCACCA	0.378		NA											15	37					0	0	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797618	93797618	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:93797618C>A	uc001pep.2	+	4	907	c.750C>A	c.(748-750)ACC>ACA	p.T250T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	250	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTTCTGCACCAACCCTGATT	0.408		NA											12	27					0.00185496	0.00204849	1	0
FOLR4	390243	broad.mit.edu	37	11	94040453	94040453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:94040453G>A	uc010rud.1	+	3	450	c.450G>A	c.(448-450)TGG>TGA	p.W150*		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	157						extracellular region	folic acid binding|receptor activity			ovary(1)	1						GTGGTGGCTGGGACTGGAGTC	0.587		NA											4	22					0	0	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106579253	106579253	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:106579253C>A	uc001pjg.1	-	7	2366	c.1976G>T	c.(1975-1977)AGC>ATC	p.S659I	GUCY1A2_uc010rvo.1_Missense_Mutation_p.S680I|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S690I	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	659					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGTGGTTGGGCTGACATTGAT	0.502		NA											15	42					2.32e-05	2.7e-05	1	0
SIK3	23387	broad.mit.edu	37	11	116797940	116797940	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:116797940A>T	uc001ppy.2	-	4	473	c.437T>A	c.(436-438)ATA>AAA	p.I146K	SIK3_uc001ppz.2_Missense_Mutation_p.I45K|SIK3_uc001pqa.2_Missense_Mutation_p.I146K	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	146	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						CTCACCTGCTATTTTGATATT	0.398		NA											25	58					0	0	0	0
SORL1	6653	broad.mit.edu	37	11	121485640	121485640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:121485640G>T	uc001pxx.2	+	41	5560	c.5480G>T	c.(5479-5481)GGG>GTG	p.G1827V	SORL1_uc010rzp.1_Missense_Mutation_p.G673V|SORL1_uc010rzq.1_Missense_Mutation_p.G442V	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1827	Extracellular (Potential).|Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGACTTGGGGGATAGCCCT	0.517		NA											30	56					5.77e-19	8.37e-19	1	0
CRTAM	56253	broad.mit.edu	37	11	122709301	122709301	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:122709301G>A	uc001pyj.2	+	1	46	c.46_splice	c.e1+1	p.E16_splice		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCCTTGCAAGGTAAGGACTTA	0.458		NA											16	51					0	0	0	0
OR10G8	219869	broad.mit.edu	37	11	123900617	123900617	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:123900617C>T	uc001pzp.1	+	1	288	c.288C>T	c.(286-288)TGC>TGT	p.C96C		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACAGCTGCATGGCTCAGC	0.527		NA											41	130					0	0	0	0
OR8G2	26492	broad.mit.edu	37	11	124095640	124095640	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:124095640C>T	uc010saf.1	+	1	243	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	81						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTCTGTCCTTCATTGATATCT	0.463		NA											50	117					0	0	0	0
SNX19	399979	broad.mit.edu	37	11	130785267	130785267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:130785267C>T	uc001qgk.3	-	1	1116	c.568G>A	c.(568-570)GAG>AAG	p.E190K	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E190K|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	190	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CAGTAAGCCTCCCAGAGGTGG	0.572		NA											7	38					0	0	0	0
NTM	50863	broad.mit.edu	37	11	132180115	132180115	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:132180115G>A	uc001qgp.2	+	5	1435	c.771G>A	c.(769-771)AAG>AAA	p.K257K	NTM_uc001qgm.2_Silent_p.K257K|NTM_uc010sch.1_Silent_p.K248K|NTM_uc010sci.1_Silent_p.K257K|NTM_uc010scj.1_Silent_p.K216K|NTM_uc001qgo.2_Silent_p.K257K|NTM_uc001qgq.2_Silent_p.K257K|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	257	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGTGGTACAAGGATGACAAAA	0.512		NA											53	137					0	0	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1895200	1895200	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:1895200A>G	uc001qjm.2	+	8	1320	c.1123A>G	c.(1123-1125)ATG>GTG	p.M375V	ADIPOR2_uc001qjn.2_Missense_Mutation_p.M375V	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	375	Extracellular (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCGTTTCATGATCGGCGG	0.537		NA											90	101					0	0	0	0
TEAD4	7004	broad.mit.edu	37	12	3147246	3147246	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:3147246T>A	uc010sej.1	+	11	1284	c.1007T>A	c.(1006-1008)TTC>TAC	p.F336Y	TEAD4_uc010sek.1_Missense_Mutation_p.F293Y|TEAD4_uc001qln.2_Missense_Mutation_p.F208Y	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	337				F->A: Reduced interaction with YAP1.	hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTGCTCTTTCGGCAAGCAG	0.577		NA											31	112					0	0	0	0
DYRK4	8798	broad.mit.edu	37	12	4702204	4702204	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:4702204A>G	uc001qmx.2	+	4	315	c.155A>G	c.(154-156)TAT>TGT	p.Y52C	DYRK4_uc009zeh.1_Missense_Mutation_p.Y167C|DYRK4_uc001qmy.1_Missense_Mutation_p.Y52C	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	52						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			CTGTCTCCATATGAACAAAGT	0.483		NA											29	103					0	0	0	0
NCAPD2	9918	broad.mit.edu	37	12	6623493	6623493	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6623493G>T	uc001qoo.2	+	7	696	c.650G>T	c.(649-651)CGC>CTC	p.R217L	NCAPD2_uc009zen.1_Missense_Mutation_p.R89L|NCAPD2_uc010sfd.1_Missense_Mutation_p.R172L	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	217	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CAGAAGAACCGCCCCACTCGG	0.488		NA											47	223					4.19e-23	6.17e-23	1	0
LEPREL2	10536	broad.mit.edu	37	12	6940435	6940435	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6940435G>A	uc001qra.1	+	7	1075	c.1041G>A	c.(1039-1041)CCG>CCA	p.P347P	LEPREL2_uc001qqz.1_Silent_p.P154P|LEPREL2_uc001qrb.1_Silent_p.P154P	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	347	TPR 4.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTTCTACCCGGAGGATGAGG	0.587		NA											25	154					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9356471	9356471	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:9356471T>A	uc001qvl.2	-	2	189	c.160A>T	c.(160-162)AAT>TAT	p.N54Y	PZP_uc009zgl.2_5'UTR	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						ACTGTCTCATTCAGGTGGCTC	0.532		NA											31	105					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018983	14018983	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:14018983G>A	uc001rbt.2	-	2	339	c.160C>T	c.(160-162)CAC>TAC	p.H54Y		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	54	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)	TCTTTCTCGTGGGCATCCTTG	0.572		NA											23	113					0	0	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893179	20893179	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:20893179T>C	uc001rej.3	+	13	1965	c.1610T>C	c.(1609-1611)ATA>ACA	p.I537T	SLCO1C1_uc010sii.1_Missense_Mutation_p.I537T|SLCO1C1_uc010sij.1_Missense_Mutation_p.I488T|SLCO1C1_uc009zip.2_Missense_Mutation_p.I371T|SLCO1C1_uc001rei.2_Missense_Mutation_p.I537T|SLCO1C1_uc010sik.1_Missense_Mutation_p.I419T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	537	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TCCTCAGGCATAGTGGGAAGA	0.388		NA											18	72					0	0	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966994	41966994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:41966994G>T	uc010skn.1	+	10	1884	c.1816G>T	c.(1816-1818)GAA>TAA	p.E606*	PDZRN4_uc001rmq.3_Nonsense_Mutation_p.E547*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.E545*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.E432*	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	805							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517		NA											42	124					4.16e-14	5.78e-14	1	0
COL2A1	1280	broad.mit.edu	37	12	48368576	48368576	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48368576G>C	uc001rqu.2	-	52	4137	c.3956C>G	c.(3955-3957)ACT>AGT	p.T1319S	COL2A1_uc001rqt.2_Missense_Mutation_p.T100S|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1250S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1319	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGTCTCGCCAGTCTCCATGTT	0.547		NA											36	123					0	0	0	0
COL2A1	1280	broad.mit.edu	37	12	48389061	48389061	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48389061G>C	uc001rqu.2	-	11	920	c.739C>G	c.(739-741)CCC>GCC	p.P247A	COL2A1_uc001rqv.2_Missense_Mutation_p.P178A	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	247	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCCAGGGGGACCAGGAGGA	0.502		NA											19	112					0	0	0	0
ASB8	140461	broad.mit.edu	37	12	48543741	48543741	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48543741T>C	uc001rrh.2	-	4	444	c.275A>G	c.(274-276)TAT>TGT	p.Y92C	ASB8_uc010slr.1_Missense_Mutation_p.Y88C	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	92	ANK 2.				intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						CTCTGCTGCATAGTGGAGGGC	0.498		NA											22	50					0	0	0	0
CSAD	51380	broad.mit.edu	37	12	53563908	53563908	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:53563908C>T	uc001sby.2	-	9	776	c.650G>A	c.(649-651)GGG>GAG	p.G217E	CSAD_uc001sbw.2_Missense_Mutation_p.G70E|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G244E|CSAD_uc001sbz.2_Missense_Mutation_p.G217E|CSAD_uc009zmu.2_Missense_Mutation_p.G70E|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	217					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACCATTTTCCCTCTGAAAAA	0.522		NA							Hereditary_Prostate_Cancer				20	49					0	0	0	0
OR10A7	121364	broad.mit.edu	37	12	55615713	55615713	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:55615713A>G	uc010spf.1	+	1	905	c.905A>G	c.(904-906)AAG>AGG	p.K302R		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						GGGGCTGTCAAGAGGACAATC	0.428		NA											5	35					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78444708	78444708	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:78444708G>C	uc001syp.2	+	11	2470	c.2297G>C	c.(2296-2298)AGT>ACT	p.S766T	NAV3_uc001syo.2_Missense_Mutation_p.S766T|NAV3_uc010sub.1_Missense_Mutation_p.S266T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	766						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TATCCTCGCAGTGGTACCAGT	0.587		NA								HNSCC(70;0.22)			7	32					0	0	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603380	94603380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94603380G>A	uc001tdc.2	+	5	1703	c.1454G>A	c.(1453-1455)GGA>GAA	p.G485E		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	485	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						ACTTTTCAAGGAGATTGTGTA	0.388		NA											36	149					0	0	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641821	94641821	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94641821C>G	uc001tdc.2	+	13	2780	c.2531C>G	c.(2530-2532)CCC>CGC	p.P844R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	844	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						CGGGAGGACCCCAGATTCACG	0.493		NA											19	58					0	0	0	0
ACTR6	64431	broad.mit.edu	37	12	100599500	100599500	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:100599500T>A	uc001thb.1	+	3	289	c.233T>A	c.(232-234)CTT>CAT	p.L78H	ACTR6_uc010svh.1_Missense_Mutation_p.L78H|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.L78H|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_5'UTR|ACTR6_uc001thf.1_5'UTR|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	78						cytoplasm|cytoskeleton				ovary(1)	1						TGGGATTACCTTTTTGGAAAA	0.209		NA											9	23					0	0	0	0
PAH	5053	broad.mit.edu	37	12	103232972	103232972	+	Missense_Mutation	SNP	G	G	A	rs76542238		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:103232972G>A	uc001tjq.1	-	14	1812	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	447			A -> D (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTGGAGGGCACTGCAAAG	0.398		NA											12	34					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111655724	111655724	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111655724A>T	uc001tsa.1	+	3	358	c.205A>T	c.(205-207)AAA>TAA	p.K69*	CUX2_uc001tsb.1_Nonsense_Mutation_p.K124*	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TCCTGTATTAAAAAGCTTCCA	0.567		NA											28	84					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111758214	111758214	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111758214G>T	uc001tsa.1	+	17	2554	c.2401G>T	c.(2401-2403)GCC>TCC	p.A801S		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	801						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCGCCCCTACGCCTCCGTGTC	0.721		NA											20	55					6.21e-17	8.89e-17	1	0
SRRM4	84530	broad.mit.edu	37	12	119583342	119583342	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119583342G>A	uc001txa.1	+	9	1220	c.928G>A	c.(928-930)GGG>AGG	p.G310R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	310	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CCAGGAGAAGGGGAGCCCCAG	0.622		NA											4	28					0	0	0	0
SRRM4	84530	broad.mit.edu	37	12	119592088	119592088	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119592088C>A	uc001txa.1	+	12	1724	c.1432C>A	c.(1432-1434)CGG>AGG	p.R478R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	478	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CTCGCAGCAGCGGGAGCGCGA	0.662		NA											3	17					0.004672	0.00506539	1	0
VPS37B	79720	broad.mit.edu	37	12	123352007	123352007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:123352007C>T	uc001udl.2	-	4	617	c.514G>A	c.(514-516)GCC>ACC	p.A172T		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	172	VPS37 C-terminal.|Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGGCCAGGGCCTGTGGGAGT	0.642		NA											35	110					0	0	0	0
NCOR2	9612	broad.mit.edu	37	12	124846676	124846676	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124846676C>G	uc010tba.1	-	22	3213	c.3096G>C	c.(3094-3096)AAG>AAC	p.K1032N	NCOR2_uc010tay.1_Missense_Mutation_p.K1031N|NCOR2_uc010taz.1_Missense_Mutation_p.K1015N|NCOR2_uc010tbb.1_Missense_Mutation_p.K1032N|NCOR2_uc010tbc.1_Missense_Mutation_p.K1014N|NCOR2_uc001ugj.1_Missense_Mutation_p.K1032N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1032					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACTCACCCTCCTTGTCGGCGG	0.652		NA											5	11					0	0	0	0
NCOR2	9612	broad.mit.edu	37	12	124862866	124862866	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124862866G>A	uc010tba.1	-	18	2201	c.2084C>T	c.(2083-2085)GCA>GTA	p.A695V	NCOR2_uc010tay.1_Missense_Mutation_p.A695V|NCOR2_uc010taz.1_Missense_Mutation_p.A695V|NCOR2_uc010tbb.1_Missense_Mutation_p.A695V|NCOR2_uc010tbc.1_Missense_Mutation_p.A694V|NCOR2_uc001ugj.1_Missense_Mutation_p.A695V	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	695					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCGGGAATGCAGCCTCCTC	0.667		NA											12	39					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834477	125834477	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:125834477G>T	uc001uhe.1	+	2	540	c.532G>T	c.(532-534)GGG>TGG	p.G178W		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	178	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGGCTGCAAGGGGCCCCAGG	0.622		NA											28	79					8.58e-18	1.24e-17	1	0
RNF6	6049	broad.mit.edu	37	13	26789615	26789615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:26789615C>T	uc001uqo.2	-	5	695	c.404G>A	c.(403-405)AGA>AAA	p.R135K	RNF6_uc001uqn.1_Missense_Mutation_p.R135K|RNF6_uc010aak.2_Missense_Mutation_p.R135K|RNF6_uc001uqp.2_Missense_Mutation_p.R135K|RNF6_uc001uqq.2_Missense_Mutation_p.R135K|RNF6_uc010tdk.1_Missense_Mutation_p.E14K	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	135					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTCACAGCTCTCCAAGTTTG	0.408		NA											20	34					0	0	0	0
LNX2	222484	broad.mit.edu	37	13	28155627	28155627	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:28155627T>G	uc001url.3	-	2	523	c.214A>C	c.(214-216)AAG>CAG	p.K72Q	LNX2_uc001urm.1_Missense_Mutation_p.K72Q	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	72	RING-type.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGAGGCACTTGTAGCAGAAT	0.413		NA											24	28					0	0	0	0
AKAP11	11215	broad.mit.edu	37	13	42874719	42874719	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:42874719A>G	uc001uys.1	+	8	2012	c.1837A>G	c.(1837-1839)AGT>GGT	p.S613G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	613					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACGTGCCATTAGTGGCCTGGC	0.388		NA											11	30					0	0	0	0
DIAPH3	81624	broad.mit.edu	37	13	60616954	60616954	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:60616954C>T	uc001vht.2	-	5	715	c.496G>A	c.(496-498)GGA>AGA	p.G166R	DIAPH3_uc001vhw.1_Missense_Mutation_p.G155R|DIAPH3_uc010aed.1_Missense_Mutation_p.G120R|DIAPH3_uc010aee.1_Missense_Mutation_p.G96R|uc001vhx.2_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	166	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTAAGACTTCCCTATAAAATA	0.378		NA											8	21					0	0	0	0
DACH1	1602	broad.mit.edu	37	13	72063214	72063214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:72063214C>T	uc010thn.1	-	8	2060	c.1637G>A	c.(1636-1638)GGA>GAA	p.G546E	DACH1_uc010tho.1_Missense_Mutation_p.G398E|DACH1_uc010thp.1_Missense_Mutation_p.G344E	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	598					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448		NA											55	104					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672447	77672447	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:77672447C>A	uc001vkf.2	-	57	8819	c.8728G>T	c.(8728-8730)GAC>TAC	p.D2910Y	MYCBP2_uc010aev.2_Missense_Mutation_p.D2314Y|MYCBP2_uc001vkg.1_Missense_Mutation_p.D433Y|MYCBP2_uc010aew.2_Missense_Mutation_p.D296Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGGTGCTGTCTGTTAGACTA	0.423		NA											35	68					4.66e-17	6.67e-17	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453670	84453670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:84453670G>T	uc001vlk.2	-	1	2859	c.1973C>A	c.(1972-1974)GCG>GAG	p.A658E		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	658	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATCTCGGACGCGGAGGAGTT	0.552		NA											20	24					1.4e-16	2e-16	1	0
SLC10A2	6555	broad.mit.edu	37	13	103701711	103701711	+	Missense_Mutation	SNP	G	G	C	rs144946104		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:103701711G>C	uc001vpy.3	-	5	1444	c.847C>G	c.(847-849)CTC>GTC	p.L283V		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	283	Extracellular (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACGACATTGAGCTCCTCAGGA	0.473		NA											34	21					0	0	0	0
CUL4A	8451	broad.mit.edu	37	13	113887572	113887572	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:113887572G>A	uc010tjy.1	+	7	605	c.594G>A	c.(592-594)CTG>CTA	p.L198L	CUL4A_uc010tjx.1_Silent_p.L98L|CUL4A_uc010agu.2_Silent_p.L59L|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	198					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAATCCTACTGCTGATCGAGC	0.512		NA											43	38					0	0	0	0
POTEG	404785	broad.mit.edu	37	14	19563520	19563520	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:19563520C>T	uc001vuz.1	+	5	1086	c.1034C>T	c.(1033-1035)GCT>GTT	p.A345V	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	345										ovary(1)	1						AGAGAGTATGCTGTTTCTAGT	0.353		NA											45	161					0	0	0	0
OR10G2	26534	broad.mit.edu	37	14	22102184	22102184	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:22102184G>T	uc010tmc.1	-	1	815	c.815C>A	c.(814-816)CCC>CAC	p.P272H		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCCAGGGGGTCTTTGGA	0.542		NA											22	62					2.38e-13	3.28e-13	1	0
EFS	10278	broad.mit.edu	37	14	23826521	23826521	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:23826521C>A	uc001wjo.2	-	6	2208	c.1600G>T	c.(1600-1602)GCC>TCC	p.A534S	EFS_uc001wjp.2_Missense_Mutation_p.A441S|EFS_uc010tnm.1_Missense_Mutation_p.A365S	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	534					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCTTGGATGGCAGGGCTGGAT	0.612		NA											4	101					0.00909568	0.00976828	1	0
HEATR5A	25938	broad.mit.edu	37	14	31852842	31852842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:31852842C>T	uc001wrf.3	-	4	679	c.602G>A	c.(601-603)CGG>CAG	p.R201Q	HEATR5A_uc010ami.2_Missense_Mutation_p.R99Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R83Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R494Q	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	488							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAGTAAGCCGTTCAAGGCA	0.473		NA											55	113					0	0	0	0
NPAS3	64067	broad.mit.edu	37	14	34269279	34269279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:34269279C>T	uc001wru.2	+	12	1830	c.1766C>T	c.(1765-1767)GCG>GTG	p.A589V	NPAS3_uc001wrs.2_Missense_Mutation_p.A576V|NPAS3_uc001wrt.2_Missense_Mutation_p.A557V|NPAS3_uc001wrv.2_Missense_Mutation_p.A559V	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCAGGCGAGGCGGGCGCGCAG	0.687		NA											5	17					0	0	0	0
KCNH5	27133	broad.mit.edu	37	14	63453789	63453789	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:63453789C>A	uc001xfx.2	-	5	600	c.549_splice	c.e5+1	p.E183_splice	KCNH5_uc001xfy.2_Splice_Site_p.E183_splice|KCNH5_uc001xfz.1_Splice_Site_p.E125_splice|KCNH5_uc001xga.2_Splice_Site_p.E125_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,						regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCATACTTACTTCAGCTAGT	0.378		NA											27	66					7.68e-24	1.13e-23	1	0
FNTB	2342	broad.mit.edu	37	14	65511158	65511158	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:65511158C>G	uc001xia.2	+	9	1117	c.952C>G	c.(952-954)CAA>GAA	p.Q318E	FNTB_uc010tsl.1_Missense_Mutation_p.Q352E|FNTB_uc010tsm.1_Missense_Mutation_p.Q272E|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.Q74E|FNTB_uc010tso.1_Missense_Mutation_p.Q233E	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	318					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTGCACGCCCAAGGTGAGCC	0.592		NA											28	96					0	0	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263521	70263521	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:70263521G>A	uc001xlr.2	-	1	486	c.352C>T	c.(352-354)CTC>TTC	p.L118F		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	118					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GCCTACCTGAGGTTCATGTCC	0.547		NA											10	24					0	0	0	0
MED6	10001	broad.mit.edu	37	14	71058033	71058034	+	Missense_Mutation	DNP	CC	CC	TA	rs149635535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058033_71058034CC>TA	uc001xmf.2	-	6	561_562	c.531_532GG>TA	c.(529-534)GTGGAT>GTTAAT	p.D178N	MED6_uc010tth.1_Missense_Mutation_p.D185N|MED6_uc010tti.1_Intron	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	178					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGTAAAGCATCCACACGTTGTC	0.351		NA											14	39					0	0	0	0
FBLN5	10516	broad.mit.edu	37	14	92349360	92349360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:92349360C>G	uc001xzx.3	-	8	1273	c.800G>C	c.(799-801)GGC>GCC	p.G267A	FBLN5_uc010aud.2_Missense_Mutation_p.G272A|FBLN5_uc010aue.2_Missense_Mutation_p.G308A	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	267	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				GAAGTATGTGCCGGGCTGGTT	0.567		NA											23	74					0	0	0	0
C14orf49	161176	broad.mit.edu	37	14	95942074	95942074	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:95942074C>G	uc001yei.3	-	1	100	c.85G>C	c.(85-87)GTC>CTC	p.V29L	C14orf49_uc010avi.2_Missense_Mutation_p.V29L|C14orf49_uc001yej.1_Missense_Mutation_p.V29L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	29	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TTGTCATTGACCTGCAGCTGG	0.652		NA											5	16					0	0	0	0
WDR25	79446	broad.mit.edu	37	14	100934422	100934422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:100934422G>C	uc010avx.2	+	3	980	c.887G>C	c.(886-888)CGG>CCG	p.R296P	WDR25_uc001yhm.2_Missense_Mutation_p.R288P|WDR25_uc001yhn.2_Missense_Mutation_p.R296P|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R39P	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296	WD 2.										0		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617		NA											37	125					0	0	0	0
KIF26A	26153	broad.mit.edu	37	14	104640109	104640109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:104640109C>T	uc001yos.3	+	10	1934	c.1934C>T	c.(1933-1935)GCC>GTC	p.A645V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	645	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGCAGGGCCGGGGAGGCT	0.667		NA											12	30					0	0	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889144	23889144	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:23889144C>A	uc001ywj.3	-	1	2032	c.1937G>T	c.(1936-1938)CGC>CTC	p.R646L		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582		NA											3	27					0.004672	0.00506539	1	0
TJP1	7082	broad.mit.edu	37	15	30003139	30003139	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:30003139T>A	uc001zcr.2	-	24	4743	c.4268A>T	c.(4267-4269)CAG>CTG	p.Q1423L	TJP1_uc010azl.2_Missense_Mutation_p.Q1411L|TJP1_uc001zcq.2_Missense_Mutation_p.Q1347L|TJP1_uc001zcs.2_Missense_Mutation_p.Q1343L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1423					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGAGTGGCCTGGATGGGTTC	0.522		NA											74	163					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:34078040G>A	uc001zhi.2	+	66	9516	c.9446G>A	c.(9445-9447)GGT>GAT	p.G3149D	RYR3_uc010bar.2_Missense_Mutation_p.G3149D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572		NA											76	186					0	0	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113133	42113133	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:42113133C>T	uc001zok.3	+	24	2889	c.2603C>T	c.(2602-2604)TCC>TTC	p.S868F	MAPKBP1_uc001zoj.3_Missense_Mutation_p.S862F|MAPKBP1_uc010bcj.2_Missense_Mutation_p.S369F|MAPKBP1_uc010bci.2_Missense_Mutation_p.S862F|MAPKBP1_uc010udb.1_Missense_Mutation_p.S701F|MAPKBP1_uc010bck.2_Missense_Mutation_p.S79F|MAPKBP1_uc010bcl.2_Missense_Mutation_p.S369F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	868										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCGTTAGATCCATGCTGGAT	0.627		NA											14	32					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44921518	44921518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:44921518G>A	uc001ztx.2	-	9	1835	c.1804C>T	c.(1804-1806)CAA>TAA	p.Q602*	SPG11_uc010ueh.1_Nonsense_Mutation_p.Q602*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q602*|SPG11_uc001zua.1_Nonsense_Mutation_p.Q602*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	602	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTTTGCTTTGGGGTTCAGAA	0.358		NA											16	44					0	0	0	0
SQRDL	58472	broad.mit.edu	37	15	45965859	45965859	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:45965859G>C	uc001zvt.2	+	6	703	c.514G>C	c.(514-516)GTT>CTT	p.V172L	SQRDL_uc001zvu.2_Missense_Mutation_p.V172L|SQRDL_uc001zvv.2_Missense_Mutation_p.V172L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	172							oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAATTATTCAGTTAAGACTGT	0.418		NA											45	93					0	0	0	0
SLC24A5	283652	broad.mit.edu	37	15	48429025	48429025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:48429025C>T	uc001zwe.2	+	6	809	c.736C>T	c.(736-738)CCA>TCA	p.P246S	SLC24A5_uc010bel.2_Missense_Mutation_p.P186S|uc001zwf.1_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	246	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGAACAACAGCCACTGATGGG	0.418		NA											11	27					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54860126	54860126	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:54860126A>G	uc002ack.2	+	28	6087	c.6087A>G	c.(6085-6087)ATA>ATG	p.I2029M		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2029					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAAATTCATAGATACTCAAA	0.328		NA											3	6					0	0	0	0
GCOM1	145781	broad.mit.edu	37	15	57953656	57953656	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:57953656A>G	uc002aei.2	+	11	1247	c.1128A>G	c.(1126-1128)TCA>TCG	p.S376S	GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Silent_p.S376S|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Silent_p.S376S|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	376	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						AGATTGAATCATTAAAGAAAA	0.318		NA											6	24					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:62302756G>A	uc002agz.2	-	13	1000	c.926C>T	c.(925-927)CCT>CTT	p.P309L	VPS13C_uc002aha.2_Missense_Mutation_p.P266L|VPS13C_uc002ahb.1_Missense_Mutation_p.P309L|VPS13C_uc002ahc.1_Missense_Mutation_p.P266L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	309					protein localization					ovary(2)	2						TTCTGCATAAGGATTCATGTA	0.373		NA											22	65					0	0	0	0
KIAA0101	9768	broad.mit.edu	37	15	64673546	64673546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:64673546C>T	uc002ank.2	-	1	157	c.25G>A	c.(25-27)GTT>ATT	p.V9I	KIAA0101_uc002anl.2_Missense_Mutation_p.V9I	NM_014736	NP_055551	Q15004	PAF_HUMAN	hypothetical protein LOC9768 isoform 1	9						mitochondrion|nucleus				central_nervous_system(1)	1						GTGCCTGGAACACTGTCTGCT	0.592		NA											61	256					0	0	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239631	65239631	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65239631C>A	uc002aoa.2	+	13	1198	c.1169C>A	c.(1168-1170)CCC>CAC	p.P390H	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.P267H	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	390					signal transduction					ovary(1)	1						CAGGACCACCCCAGTGATCCC	0.607		NA											8	26					0.00307968	0.00337414	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676728	65676728	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65676728G>T	uc002aou.1	-	20	3582	c.3372C>A	c.(3370-3372)GCC>GCA	p.A1124A	IGDCC4_uc002aot.1_Silent_p.A712A	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1124	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGTTCCTGCAGGCTGGGGGTG	0.522		NA											98	123					5.66e-50	8.63e-50	1	0
SLC24A1	9187	broad.mit.edu	37	15	65916538	65916538	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65916538C>T	uc010ujf.1	+	2	407	c.120C>T	c.(118-120)CAC>CAT	p.H40H	SLC24A1_uc010ujd.1_Silent_p.H40H|SLC24A1_uc010uje.1_Silent_p.H40H|SLC24A1_uc010ujg.1_Silent_p.H40H|SLC24A1_uc010ujh.1_Silent_p.H40H	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	40	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						CTTATCAGCACCTTAGGAGAC	0.532		NA											20	89					0	0	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178913	74178913	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:74178913G>T	uc002avz.2	+	8	820	c.737G>T	c.(736-738)CGT>CTT	p.R246L	TBC1D21_uc010ulc.1_Missense_Mutation_p.R210L	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	246	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(2)	2						TGCTTCCAGCGTGCCTTCAAG	0.592		NA											33	58					3.21e-22	4.72e-22	1	0
CSK	1445	broad.mit.edu	37	15	75090969	75090969	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75090969C>T	uc010bkb.1	+	4	212	c.29C>T	c.(28-30)TCC>TTC	p.S10F	CSK_uc010bka.2_Silent_p.I80I|CSK_uc002ays.2_Missense_Mutation_p.S10F|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	10	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GCCTGGCCATCCGGTACAGAA	0.642		NA											20	23					0	0	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648457	75648457	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75648457G>C	uc002baf.2	-	25	3007	c.2990C>G	c.(2989-2991)GCC>GGC	p.A997G	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.A974G|MAN2C1_uc002bah.2_Missense_Mutation_p.A1014G|MAN2C1_uc010bkk.2_Missense_Mutation_p.A898G	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TCACAGGATGGCCTCCTGAAC	0.672		NA											10	49					0	0	0	0
NRG4	145957	broad.mit.edu	37	15	76254225	76254225	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:76254225A>G	uc002bbo.2	-	4	379	c.195T>C	c.(193-195)TTT>TTC	p.F65F	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	65	Helical; Note=Internal signal sequence; (Potential).					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						CCAATGCCACAAAAGCTTCAA	0.393		NA											100	97					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83328416	83328417	+	Silent	DNP	GG	GG	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328416_83328417GG>AT	uc010uoh.1	-	26	3321_3322	c.3144_3145CC>AT	c.(3142-3147)ACCCTG>ACATTG	p.1048_1049TL>TL	AP3B2_uc010uoi.1_Silent_p.1067_1068TL>TL|AP3B2_uc010uoj.1_Silent_p.1016_1017TL>TL|AP3B2_uc010bmp.2_Silent_p.111_112TL>TL|AP3B2_uc010uog.1_Silent_p.684_685TL>TL	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	1048_1049					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGCATCCAGGGTCAGCAGAA	0.559		NA											14	43					0	0	0	0
NMB	4828	broad.mit.edu	37	15	85200448	85200448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85200448C>G	uc002bkz.2	-	2	708	c.289G>C	c.(289-291)GCT>CCT	p.A97P	WDR73_uc002bkw.2_5'Flank|WDR73_uc002bkx.2_5'Flank|WDR73_uc010upa.1_5'Flank|NMB_uc002bla.2_Missense_Mutation_p.A97P	NM_021077	NP_066563	P08949	NMB_HUMAN	neuromedin B isoform 1	97					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity				0				all cancers(203;3.5e-06)		ACGCCCAGAGCCTTCTTTAGC	0.652		NA											13	19					0	0	0	0
SLC28A1	9154	broad.mit.edu	37	15	85488082	85488082	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85488082C>T	uc002blg.2	+	18	2060	c.1858C>T	c.(1858-1860)CGT>TGT	p.R620C	SLC28A1_uc010bnb.2_Missense_Mutation_p.R620C|SLC28A1_uc010upe.1_Missense_Mutation_p.R454C|SLC28A1_uc010upf.1_Missense_Mutation_p.R620C|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	620					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGTGCTGCCGTGAGGCCTT	0.592		NA											36	54					0	0	0	0
KLHL25	64410	broad.mit.edu	37	15	86312264	86312264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:86312264C>A	uc002bly.2	-	2	981	c.778G>T	c.(778-780)GAG>TAG	p.E260*		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	260						cytoplasm				ovary(2)	2						TTGGTGCGCTCGTCTGCCATG	0.667		NA											17	26					0.00074312	0.000830194	1	0
NTRK3	4916	broad.mit.edu	37	15	88679705	88679705	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:88679705G>T	uc002bme.1	-	7	920	c.758C>A	c.(757-759)ACT>AAT	p.T253N	NTRK3_uc002bmh.2_Missense_Mutation_p.T253N|NTRK3_uc002bmf.1_Missense_Mutation_p.T253N|NTRK3_uc010upl.1_Missense_Mutation_p.T155N|NTRK3_uc010bnh.1_Missense_Mutation_p.T253N|NTRK3_uc002bmg.2_Missense_Mutation_p.T253N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	253	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACCTGGTGAGTGTTGATGGA	0.517		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			10	46					7.48e-07	9.15e-07	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424727	89424727	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:89424727G>A	uc002bnc.2	-	3	482	c.354C>T	c.(352-354)CGC>CGT	p.R118R	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.R180R	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	118	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCAGGTGCACGCGGCCTTGGT	0.627		NA											12	135					0	0	0	0
TARSL2	123283	broad.mit.edu	37	15	102201966	102201966	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:102201966C>G	uc002bxm.2	-	16	2076	c.2021G>C	c.(2020-2022)GGA>GCA	p.G674A	TARSL2_uc002bxl.2_Missense_Mutation_p.G219A|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	674					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACTGATCCCAAAATGGC	0.303		NA											7	41					0	0	0	0
CASKIN1	57524	broad.mit.edu	37	16	2235118	2235118	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:2235118G>T	uc010bsg.1	-	12	1265	c.1233C>A	c.(1231-1233)GGC>GGA	p.G411G		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	411	CASK-binding (By similarity).				signal transduction	cytoplasm				skin(2)	2						CTACCTTGACGCCTTCAGAGC	0.687		NA											8	20					0.000157383	0.000179846	1	0
NUBP1	4682	broad.mit.edu	37	16	10861862	10861862	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:10861862A>T	uc002daa.1	+	10	900	c.877A>T	c.(877-879)ACG>TCG	p.T293S	FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_RNA|NUBP1_uc002dab.1_Missense_Mutation_p.T282S|FAM18A_uc002dae.1_3'UTR	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	293					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						TTCCCCAGCCACGTTAGCCTA	0.438		NA											40	31					0	0	0	0
ACSM5	54988	broad.mit.edu	37	16	20430566	20430566	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:20430566G>T	uc002dhe.2	+	4	579	c.432G>T	c.(430-432)CCG>CCT	p.P144P	ACSM5_uc002dhd.1_Silent_p.P144P	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	144					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TGATGATTCCGGGTGTGACTC	0.552		NA											20	46					8.1e-08	1.02e-07	1	0
TNRC6A	27327	broad.mit.edu	37	16	24816384	24816384	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:24816384G>A	uc002dmm.2	+	14	4148	c.4034G>A	c.(4033-4035)CGG>CAG	p.R1345Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1092Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1043Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R984Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Missense_Mutation_p.R12Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1345					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GCACAACCCCGGGGCATGCAG	0.473		NA											63	58					0	0	0	0
ZNF48	197407	broad.mit.edu	37	16	30408665	30408665	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:30408665A>T	uc002dya.1	+	2	153	c.94A>T	c.(94-96)AAC>TAC	p.N32Y	ZNF48_uc002dxz.1_5'UTR	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGGAGTGAGAACGTGATTTC	0.473		NA											28	85					0	0	0	0
NOD2	64127	broad.mit.edu	37	16	50745419	50745419	+	Nonsense_Mutation	SNP	C	C	T	rs147417132		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:50745419C>T	uc002egm.1	+	4	1702	c.1597C>T	c.(1597-1599)CAA>TAA	p.Q533*	NOD2_uc010cbk.1_Nonsense_Mutation_p.Q506*|NOD2_uc002egl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbm.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	533	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CTCAGCTTCCCAAGGTCTGGG	0.617		NA											30	39					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72991344	72991344	+	Missense_Mutation	SNP	C	C	G	rs148024459	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:72991344C>G	uc002fck.2	-	2	3374	c.2701G>C	c.(2701-2703)GCC>CCC	p.A901P	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	901					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCGTCATGGCGGCCATGGGC	0.547		NA											59	42					0	0	0	0
FOXC2	2303	broad.mit.edu	37	16	86602395	86602395	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:86602395C>A	uc002fjq.2	+	1	1539	c.1454C>A	c.(1453-1455)CCG>CAG	p.P485Q		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	485					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						AGATCCACGCCGCCTCTCTAT	0.647		NA							Late-onset_Hereditary_Lymphedema				39	25					8.16e-20	1.19e-19	1	0
MYO1C	4641	broad.mit.edu	37	17	1381744	1381744	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:1381744G>A	uc002fsp.2	-	11	1475	c.1255C>T	c.(1255-1257)CTC>TTC	p.L419F	MYO1C_uc002fsn.2_Missense_Mutation_p.L400F|MYO1C_uc002fso.2_Missense_Mutation_p.L384F|MYO1C_uc010vqj.1_Missense_Mutation_p.L384F|MYO1C_uc010vqk.1_Missense_Mutation_p.L395F	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	419	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATATCCAGGAGCCCGAGAACC	0.622		NA											25	45					0	0	0	0
C17orf81	23587	broad.mit.edu	37	17	7160292	7160292	+	Missense_Mutation	SNP	G	G	T	rs147755585		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7160292G>T	uc002gfg.1	+	6	681	c.574G>T	c.(574-576)GGT>TGT	p.G192C	C17orf81_uc002gfj.2_Missense_Mutation_p.G192C|C17orf81_uc010cmb.2_Missense_Mutation_p.G192C|C17orf81_uc002gfh.1_Missense_Mutation_p.G192C|C17orf81_uc002gfi.1_Missense_Mutation_p.G192C|C17orf81_uc002gfl.1_Missense_Mutation_p.G192C	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						GACCCTGGGCGGTACCATGGG	0.617		NA											15	21					6.32e-08	7.93e-08	1	0
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:10355578G>T	uc002gmn.2	-	27	3529	c.3418C>A	c.(3418-3420)CGC>AGC	p.R1140S	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1140	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						AGGTCAGAGCGCTGCTTCTCT	0.582		NA											48	72					2.47e-29	3.69e-29	1	0
KIAA0100	9703	broad.mit.edu	37	17	26964893	26964893	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:26964893C>T	uc002hbu.2	-	14	1831	c.1732G>A	c.(1732-1734)GTC>ATC	p.V578I		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	578						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATGTCTTCGACCTTCAAGTCC	0.393		NA											17	41					0	0	0	0
ZNF207	7756	broad.mit.edu	37	17	30692368	30692368	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:30692368A>T	uc002hhh.3	+	7	790	c.642A>T	c.(640-642)CCA>CCT	p.P214P	ZNF207_uc002hhj.3_Silent_p.P230P|ZNF207_uc002hhi.3_Silent_p.P230P|ZNF207_uc010csz.2_Silent_p.P233P|ZNF207_uc002hhk.1_Silent_p.P230P|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCTGTTCCACGTCCTGGAA	0.458		NA											49	81					0	0	0	0
CCL2	6347	broad.mit.edu	37	17	32582401	32582401	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:32582401G>T	uc002hhy.2	+	1	106	c.33G>T	c.(31-33)CTG>CTT	p.L11L		NM_002982	NP_002973	P13500	CCL2_HUMAN	small inducible cytokine A2 precursor	11					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			pancreas(1)	1	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TGTGCCTGCTGCTCATAGCAG	0.537		NA											7	45					2.01e-06	2.42e-06	1	0
GHDC	84514	broad.mit.edu	37	17	40344951	40344951	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40344951G>C	uc002hzd.2	-	3	844	c.360C>G	c.(358-360)AAC>AAG	p.N120K	GHDC_uc002hzg.1_Missense_Mutation_p.N120K|GHDC_uc010wgg.1_Intron|GHDC_uc002hze.3_Missense_Mutation_p.N120K|GHDC_uc002hzf.3_Missense_Mutation_p.N120K|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	120						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAGGTCCTGGTTTGAGGTCG	0.592		NA											44	120					0	0	0	0
STAT5B	6777	broad.mit.edu	37	17	40368065	40368065	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40368065G>A	uc002hzh.2	-	12	1609	c.1440C>T	c.(1438-1440)GCC>GCT	p.A480A		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	480					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGAGAACAGTGGCCGTCGCAT	0.522		NA											12	18					0	0	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390790	42390790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:42390790G>T	uc002igl.3	+	4	651	c.377G>T	c.(376-378)CGG>CTG	p.R126L	RUNDC3A_uc002igi.2_Missense_Mutation_p.R126L|RUNDC3A_uc002igj.2_Missense_Mutation_p.R121L|RUNDC3A_uc002igk.2_Missense_Mutation_p.R122L	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	126	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAGGGCCGGGCATGGATC	0.607		NA											13	48					1.62e-10	2.14e-10	1	0
MAPT	4137	broad.mit.edu	37	17	44061110	44061110	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:44061110G>C	uc002ijr.3	+	6	1260	c.940G>C	c.(940-942)GAG>CAG	p.E314Q	MAPT_uc010dau.2_Missense_Mutation_p.E314Q|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	314					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CGTGCAGAAGGAGCAGGCGCA	0.647		NA											20	67					0	0	0	0
CHAD	1101	broad.mit.edu	37	17	48545852	48545853	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545852_48545853TG>AT	uc010dbr.2	-	1	375_376	c.322_323CA>AT	c.(322-324)CAT>ATT	p.H108I	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.H108I|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	108	LRR 2.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATGTCGTTATGGGACAGGTAC	0.629		NA											23	76					0	0	0	0
TRIM25	7706	broad.mit.edu	37	17	54990924	54990924	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:54990924G>A	uc002iut.2	-	1	486	c.426C>T	c.(424-426)GAC>GAT	p.D142D	TRIM25_uc010dcj.2_5'UTR	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	142					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GCAGCGGGTGGTCCTGGAAGG	0.637		NA											19	29					0	0	0	0
ACE	1636	broad.mit.edu	37	17	61566111	61566111	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:61566111C>A	uc002jau.1	+	16	2430	c.2408C>A	c.(2407-2409)CCG>CAG	p.P803Q	ACE_uc002jav.1_Missense_Mutation_p.P229Q|ACE_uc010ddv.1_Missense_Mutation_p.P30Q|ACE_uc010wpj.1_Missense_Mutation_p.P229Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.P113Q	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	803	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTTTTACCCGAAATACGTG	0.552		NA											11	58					0.000673444	0.000753027	1	0
ERN1	2081	broad.mit.edu	37	17	62121439	62121439	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:62121439A>G	uc002jdz.2	-	22	2956	c.2843T>C	c.(2842-2844)ATG>ACG	p.M948T	uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	948	Cytoplasmic (Potential).|KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						GCACAGCTCCATGGCCCGGTA	0.662		NA											41	104					0	0	0	0
KPNA2	3838	broad.mit.edu	37	17	66040510	66040510	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:66040510T>A	uc002jgk.2	+	9	1370	c.1238T>A	c.(1237-1239)ATT>AAT	p.I413N	KPNA2_uc002jgl.2_Missense_Mutation_p.I413N	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	413	ARM 9.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTGAACAGATTGTGTACCTT	0.388		NA											61	184					0	0	0	0
HGS	9146	broad.mit.edu	37	17	79662939	79662939	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:79662939A>G	uc002kbg.2	+	15	1380	c.1303A>G	c.(1303-1305)AAT>GAT	p.N435D		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	435	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCATCACCAATGACTCGGC	0.622		NA											15	46					0	0	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:3879232C>G	uc002kmf.2	-	1	904	c.837G>C	c.(835-837)TGG>TGC	p.W279C	DLGAP1_uc010wyz.1_Missense_Mutation_p.W279C|DLGAP1_uc002kmk.2_Missense_Mutation_p.W279C|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCT	0.642		NA											19	65					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489138	5489138	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5489138C>T	uc002kmt.1	-	2	131	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q	EPB41L3_uc010wzh.1_Silent_p.Q15Q|EPB41L3_uc002kmu.1_Silent_p.Q15Q|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.Q37Q|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	15					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCTCGGCCTCCTGGTCCGGCT	0.498		NA											21	75					0	0	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891714	5891714	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5891714G>T	uc002kmx.1	-	1	390	c.349C>A	c.(349-351)CCT>ACT	p.P117T		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	117						integral to membrane					0						GGAGCCCTAGGGTGGCTCCTG	0.706		NA											19	81					6.33e-15	8.87e-15	1	0
LAMA1	284217	broad.mit.edu	37	18	6955459	6955459	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:6955459C>T	uc002knm.2	-	57	8194	c.8100G>A	c.(8098-8100)CAG>CAA	p.Q2700Q	LAMA1_uc002knk.2_Silent_p.Q30Q|LAMA1_uc002knl.2_Silent_p.Q153Q|LAMA1_uc010wzj.1_Silent_p.Q2176Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2700					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCACACACTGTTCCTGTA	0.557		NA											18	13					0	0	0	0
GATA6	2627	broad.mit.edu	37	18	19761485	19761485	+	Silent	SNP	C	C	T	rs143026087	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:19761485C>T	uc002ktt.1	+	4	1639	c.1374C>T	c.(1372-1374)AAC>AAT	p.N458N	GATA6_uc002ktu.1_Silent_p.N458N	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	458	GATA-type 2.				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGCGCAGAAACGCCGAGGGTG	0.473		NA											4	70					0	0	0	0
FHOD3	80206	broad.mit.edu	37	18	34340703	34340703	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:34340703A>C	uc002kzt.1	+	22	4079	c.3982A>C	c.(3982-3984)ACC>CCC	p.T1328P	FHOD3_uc002kzs.1_Missense_Mutation_p.T1345P|FHOD3_uc010dmz.1_Missense_Mutation_p.T1060P|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1328					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGGACGCCACCCCCGCGCT	0.682		NA											9	40					0	0	0	0
KIAA1632	57724	broad.mit.edu	37	18	43496500	43496500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:43496500G>A	uc002lbm.2	-	18	3387	c.3287C>T	c.(3286-3288)CCT>CTT	p.P1096L	KIAA1632_uc002lbo.1_Missense_Mutation_p.P1096L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_5'UTR	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1096					autophagy						0						GACACCCTGAGGGACACCGCT	0.537		NA											14	36					0	0	0	0
MBD1	4152	broad.mit.edu	37	18	47803478	47803478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:47803478C>G	uc010dow.1	-	3	644	c.207G>C	c.(205-207)TTG>TTC	p.L69F	MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Missense_Mutation_p.L69F|MBD1_uc010xdi.1_Missense_Mutation_p.L95F|MBD1_uc002leh.3_Missense_Mutation_p.L69F|MBD1_uc002len.2_Missense_Mutation_p.L69F|MBD1_uc002lei.3_Missense_Mutation_p.L69F|MBD1_uc002lej.3_Missense_Mutation_p.L69F|MBD1_uc002lek.3_Missense_Mutation_p.L69F|MBD1_uc002lel.3_Missense_Mutation_p.L69F|MBD1_uc002lem.3_Missense_Mutation_p.L69F|MBD1_uc010xdj.1_Missense_Mutation_p.L69F|MBD1_uc010xdk.1_Missense_Mutation_p.L69F|MBD1_uc010dox.1_Missense_Mutation_p.L69F|MBD1_uc002leo.2_Missense_Mutation_p.L69F	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	69	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTGGATAGCACAAGATGCCTT	0.537		NA											10	41					0	0	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020099	55020099	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:55020099C>T	uc002lgn.2	+	1	379	c.22C>T	c.(22-24)CGG>TGG	p.R8W		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	8	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAATGGCCCGGGTCGCCAG	0.557		NA											15	34					0	0	0	0
MC4R	4160	broad.mit.edu	37	18	58039143	58039143	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:58039143C>A	uc002lie.1	-	1	859	c.440G>T	c.(439-441)AGG>ATG	p.R147M		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	147	Cytoplasmic (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AGTAAAGTACCTGTCCACTGC	0.433		NA											13	49					5.51e-06	6.55e-06	1	0
NETO1	81832	broad.mit.edu	37	18	70526311	70526311	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:70526311T>A	uc002lkw.2	-	4	505	c.221_splice	c.e4-1	p.A74_splice	NETO1_uc002lkx.1_Splice_Site_p.A73_splice|NETO1_uc002lky.1_Splice_Site_p.A74_splice|NETO1_uc002lkz.2_Splice_Site_p.A73_splice	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTGGAGCGGCTGTAAAGAAGA	0.368		NA											9	48					0	0	0	0
ZNF407	55628	broad.mit.edu	37	18	72344576	72344576	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:72344576G>T	uc002llw.2	+	1	1658	c.1601G>T	c.(1600-1602)GGG>GTG	p.G534V	ZNF407_uc010xfc.1_Missense_Mutation_p.G534V|ZNF407_uc010dqu.1_Missense_Mutation_p.G534V|ZNF407_uc002llu.2_Missense_Mutation_p.G533V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	534	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACAGACTGTGGGCAAGTAGCT	0.517		NA											71	183					4.61e-44	7.01e-44	1	0
SGTA	6449	broad.mit.edu	37	19	2757733	2757734	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757733_2757734CC>AA	uc002lwi.1	-	10	931_932	c.784_785GG>TT	c.(784-786)GGC>TTC	p.G262F		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	262					interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCTGGTGCCGGGAGTTCCC	0.678		NA											4	7					0	0	0	0
CHAF1A	10036	broad.mit.edu	37	19	4442304	4442304	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:4442304C>T	uc002mal.2	+	14	2836	c.2736C>T	c.(2734-2736)GGC>GGT	p.G912G		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	912	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggaggGCGACTGTATGA	0.517		NA						Chromatin_Structure					7	13					0	0	0	0
MLLT1	4298	broad.mit.edu	37	19	6230694	6230694	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:6230694C>T	uc002mek.2	-	4	471	c.307G>A	c.(307-309)GAC>AAC	p.D103N		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	103	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						AGGAACAGGTCGTAGGTGAAG	0.582		NA	T	MLL	AL								46	99					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	8969277	8969277	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:8969277G>T	uc002mkp.2	-	79	43271	c.43067C>A	c.(43066-43068)GCG>GAG	p.A14356E	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A1156E|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTTCTCACCGCATCCTCAAT	0.438		NA											21	61					3.84e-06	4.59e-06	1	0
MUC16	94025	broad.mit.edu	37	19	9059669	9059669	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9059669G>T	uc002mkp.2	-	3	27981	c.27777C>A	c.(27775-27777)CCC>CCA	p.P9259P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9261	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						TATCTCCTGTGGGGTAGGTGA	0.468		NA											32	43					3.99e-17	5.73e-17	1	0
ZNF560	147741	broad.mit.edu	37	19	9578043	9578043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9578043G>A	uc002mlp.1	-	10	1790	c.1580C>T	c.(1579-1581)TCT>TTT	p.S527F	ZNF560_uc010dwr.1_Missense_Mutation_p.S421F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	527	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						ACAGGCAGAAGAGGTAAATGG	0.398		NA											36	35					0	0	0	0
PIK3R2	5296	broad.mit.edu	37	19	18278076	18278076	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:18278076G>T	uc002nia.1	+	13	2208	c.1696G>T	c.(1696-1698)GAC>TAC	p.D566Y	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	566					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CCTCAAGCCGGACCTCATGCA	0.622		NA											16	42					6.94e-10	9.11e-10	1	0
ZNF253	56242	broad.mit.edu	37	19	20002666	20002666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:20002666G>T	uc002noj.2	+	4	702	c.610G>T	c.(610-612)GAA>TAA	p.E204*	ZNF253_uc002nok.2_Nonsense_Mutation_p.E128*|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	204	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGATGTGAAGAATGTGGCAA	0.373		NA											11	28					5.17e-11	6.89e-11	1	0
ZNF99	7652	broad.mit.edu	37	19	22940345	22940345	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940345T>A	uc010xrh.1	-	5	2093	c.2093A>T	c.(2092-2094)TAT>TTT	p.Y698F		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTATAGGGTTTCTT	0.353		NA											14	30					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22940512	22940512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940512G>T	uc010xrh.1	-	5	1926	c.1926C>A	c.(1924-1926)TAC>TAA	p.Y642*		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTAGGGTTTCT	0.378		NA											5	34					5.94e-07	7.29e-07	1	0
TIMM50	92609	broad.mit.edu	37	19	39976376	39976376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:39976376G>T	uc002olu.1	+	6	863	c.730G>T	c.(730-732)GAA>TAA	p.E244*	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	141	Mitochondrial intermembrane (Potential).				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCTCTGCAGGAACCGTACTA	0.587		NA											16	75					6.5e-13	8.92e-13	1	0
LGALS13	29124	broad.mit.edu	37	19	40095319	40095319	+	Splice_Site	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40095319G>C	uc002omb.2	+	2	132	c.92_splice	c.e2+1	p.I31_splice		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13						lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACTCTTTTATGTGAGTACTCC	0.453		NA											39	114					0	0	0	0
CLC	1178	broad.mit.edu	37	19	40222130	40222130	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40222130G>T	uc002omh.2	-	4	395	c.319C>A	c.(319-321)CAA>AAA	p.Q107K		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	107	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TAAGAGGATTGGCCATTGACC	0.413		NA											40	154					4.07e-28	6.06e-28	1	0
FCGBP	8857	broad.mit.edu	37	19	40357440	40357440	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40357440C>A	uc002omp.3	-	34	15881	c.15873G>T	c.(15871-15873)GTG>GTT	p.V5291V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5291	VWFD 13.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCTGGCCCACAGCCTCCG	0.547		NA											21	71					1.26e-06	1.54e-06	1	0
CEACAM7	1087	broad.mit.edu	37	19	42187951	42187951	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42187951C>A	uc002ori.1	-	3	473	c.471G>T	c.(469-471)CCG>CCT	p.P157P	CEACAM7_uc010ehx.2_Silent_p.P157P|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	157	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTCTCCACCGGATTGAAGT	0.522		NA											43	114					1.15e-24	1.7e-24	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42406968	42406968	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42406968A>T	uc002orx.2	+	18	1767	c.1658A>T	c.(1657-1659)CAG>CTG	p.Q553L	ARHGEF1_uc002ory.2_Missense_Mutation_p.Q520L|ARHGEF1_uc002orz.2_Missense_Mutation_p.Q391L|ARHGEF1_uc002osa.2_Missense_Mutation_p.Q568L|ARHGEF1_uc002osb.2_Missense_Mutation_p.Q535L|ARHGEF1_uc002osc.2_Missense_Mutation_p.Q307L|ARHGEF1_uc002osd.2_Missense_Mutation_p.Q212L|ARHGEF1_uc002ose.2_5'UTR	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	553	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGCCGCCTGCAGCTGAAGGAC	0.652		NA											23	60					0	0	0	0
PSG6	5675	broad.mit.edu	37	19	43529172	43529172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:43529172G>T	uc002ovh.1	-	2	208	c.119C>A	c.(118-120)GCC>GAC	p.A40D	PSG11_uc002ouw.2_Missense_Mutation_p.A40D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A40D|PSG11_uc002ovm.1_Missense_Mutation_p.A34D|PSG11_uc002ovn.1_Missense_Mutation_p.A40D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	34					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				CATGACTTGGGCAGTGGTAGG	0.478		NA											64	189					8.82e-31	1.32e-30	1	0
ZNF222	7673	broad.mit.edu	37	19	44536052	44536052	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44536052A>G	uc002oyc.2	+	4	408	c.225A>G	c.(223-225)CAA>CAG	p.Q75Q	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Silent_p.Q115Q|ZNF222_uc002oyd.2_Silent_p.Q21Q	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				TTTGGGAACAAATTGCAAGTG	0.403		NA											21	54					0	0	0	0
ZNF285	26974	broad.mit.edu	37	19	44890987	44890987	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44890987G>T	uc002ozd.3	-	4	1507	c.1420C>A	c.(1420-1422)CAT>AAT	p.H474N	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.H481N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	474	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						ACTCTCTGATGAGTGTGAAGA	0.398		NA											30	75					7.26e-15	1.01e-14	1	0
IGFL4	444882	broad.mit.edu	37	19	46543550	46543550	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:46543550G>T	uc002pdy.1	-	3	249	c.195C>A	c.(193-195)AGC>AGA	p.S65R		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	65						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGAAGGTGCAGCTGGAGCCGC	0.597		NA											20	53					8.81e-21	1.28e-20	1	0
DHX34	9704	broad.mit.edu	37	19	47884120	47884120	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:47884120G>T	uc010xyn.1	+	15	3371	c.3030G>T	c.(3028-3030)ATG>ATT	p.M1010I	DHX34_uc010xyo.1_Missense_Mutation_p.M139I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1010						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCAGAACATGTATGTGGGAC	0.463		NA											17	67					3.57e-18	5.17e-18	1	0
ZNF350	59348	broad.mit.edu	37	19	52468462	52468462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468462G>A	uc002pyd.2	-	5	1472	c.1244C>T	c.(1243-1245)TCG>TTG	p.S415L	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	415	C2H2-type 8.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AACCAGACACGACATATACGC	0.473		NA											21	49					0	0	0	0
ZNF350	59348	broad.mit.edu	37	19	52468703	52468703	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468703C>T	uc002pyd.2	-	5	1231	c.1003G>A	c.(1003-1005)GCA>ACA	p.A335T	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	335	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTCTGATGTGCTATGAGACAC	0.393		NA											19	68					0	0	0	0
TMC4	147798	broad.mit.edu	37	19	54668180	54668180	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54668180G>A	uc010erf.2	-	7	1251	c.1119C>T	c.(1117-1119)ACC>ACT	p.T373T	TMC4_uc002qdn.2_Missense_Mutation_p.R64C|TMC4_uc002qdo.2_Silent_p.T367T	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	373	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGCTCCACGGTGCACCCCG	0.632		NA											55	134					0	0	0	0
LAIR1	3903	broad.mit.edu	37	19	54867571	54867571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54867571C>A	uc002qfk.1	-	9	1019	c.709G>T	c.(709-711)GAC>TAC	p.D237Y	LAIR1_uc002qfl.1_Missense_Mutation_p.D220Y|LAIR1_uc002qfm.1_Missense_Mutation_p.D236Y|LAIR1_uc002qfn.1_Missense_Mutation_p.D219Y|LAIR1_uc010yex.1_Missense_Mutation_p.D230Y|LAIR1_uc002qfo.2_Missense_Mutation_p.D219Y	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	237	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCGAGGTGTCCGTCTCTCTG	0.323		NA											24	81					7.44e-23	1.1e-22	1	0
LILRA2	11027	broad.mit.edu	37	19	55087020	55087020	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55087020G>T	uc002qgg.3	+	5	1041	c.952_splice	c.e5+1	p.G318_splice	LILRA2_uc010ern.2_Splice_Site_p.G318_splice|LILRA2_uc002qgf.2_Splice_Site_p.G318_splice|LILRA2_uc010yfe.1_Splice_Site_p.G318_splice|LILRA2_uc010yff.1_Splice_Site_p.G306_splice|LILRA2_uc010ero.2_Splice_Site_p.G306_splice|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,						defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CTGATCACAGGTGAGGAGCCC	0.657		NA											19	67					4.35e-09	5.63e-09	1	0
LILRA1	11024	broad.mit.edu	37	19	55106733	55106733	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55106733G>T	uc002qgh.1	+	5	709	c.527G>T	c.(526-528)GGG>GTG	p.G176V	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G176V	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	176	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CGTACCCATGGGTGGTCCCGG	0.562		NA											43	165					1.47e-15	2.08e-15	1	0
LILRB1	10859	broad.mit.edu	37	19	55143548	55143548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55143548C>G	uc002qgj.2	+	6	861	c.521C>G	c.(520-522)GCC>GGC	p.A174G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.A174G|LILRB1_uc002qgk.2_Missense_Mutation_p.A174G|LILRB1_uc002qgm.2_Missense_Mutation_p.A174G|LILRB1_uc010erq.2_Missense_Mutation_p.A174G|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	174	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAGCCCCATGCCCGTGGGTCG	0.572		NA								HNSCC(37;0.09)			38	92					0	0	0	0
SUV420H2	84787	broad.mit.edu	37	19	55853662	55853662	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55853662G>C	uc002qkj.3	+	3	438	c.190G>C	c.(190-192)GCG>CCG	p.A64P	SUV420H2_uc010esx.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkk.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkl.2_Intron	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCTGGAGGCTGCGTACCGGGC	0.726		NA											5	13					0	0	0	0
ZNF135	7694	broad.mit.edu	37	19	58578900	58578900	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:58578900G>A	uc010yhq.1	+	5	1180	c.1084G>A	c.(1084-1086)GGG>AGG	p.G362R	ZNF135_uc002qre.2_Missense_Mutation_p.G350R|ZNF135_uc002qrd.1_Missense_Mutation_p.G308R|ZNF135_uc002qrf.2_Missense_Mutation_p.G308R|ZNF135_uc002qrg.2_Missense_Mutation_p.G320R|ZNF135_uc010yhr.1_Missense_Mutation_p.G171R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	362					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572		NA											18	32					0	0	0	0
APOB	338	broad.mit.edu	37	2	21226197	21226197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:21226197C>T	uc002red.2	-	29	12225	c.12097G>A	c.(12097-12099)GAT>AAT	p.D4033N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4033					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTTTATCTGGAGAGGAC	0.338		NA											87	238					0	0	0	0
OTOF	9381	broad.mit.edu	37	2	26696031	26696031	+	Silent	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:26696031T>G	uc002rhk.2	-	29	3829	c.3702A>C	c.(3700-3702)CCA>CCC	p.P1234P	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.P487P|OTOF_uc002rhi.2_Silent_p.P544P|OTOF_uc002rhj.2_Silent_p.P487P	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1234	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAGCGGTCTGGGGGCCGGT	0.682		NA											16	44					0	0	0	0
ZNF513	130557	broad.mit.edu	37	2	27603383	27603383	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:27603383C>T	uc002rkk.2	-	1	211	c.11G>A	c.(10-12)AGG>AAG	p.R4K	ZNF513_uc002rkj.2_5'Flank	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	4					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGCTTCCTTCGGGGCAT	0.711		NA											4	9					0	0	0	0
WDR43	23160	broad.mit.edu	37	2	29169565	29169565	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:29169565G>A	uc002rmo.2	+	18	1986	c.1954G>A	c.(1954-1956)GAG>AAG	p.E652K		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	652						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					agaaaatggcgaggacagaga	0.149		NA											3	8					0	0	0	0
PSME4	23198	broad.mit.edu	37	2	54125132	54125132	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:54125132A>T	uc002rxp.2	-	31	3537	c.3481T>A	c.(3481-3483)TGG>AGG	p.W1161R	PSME4_uc010yop.1_Missense_Mutation_p.W1047R|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.W536R|PSME4_uc010fbv.1_Missense_Mutation_p.W305R	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCAAATTTCCAGGGCCTTAAA	0.363		NA											28	85					0	0	0	0
XPO1	7514	broad.mit.edu	37	2	61760930	61760930	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:61760930A>G	uc002sbj.2	-	2	831	c.103T>C	c.(103-105)TTA>CTA	p.L35L	XPO1_uc010fcl.2_Silent_p.L31L|XPO1_uc010ypn.1_Silent_p.L31L|XPO1_uc002sbk.2_5'UTR	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	35	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCATGGTATAAGCAATTCACC	0.368		NA											16	45					0	0	0	0
DYSF	8291	broad.mit.edu	37	2	71825794	71825794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:71825794G>T	uc002sie.2	+	33	3997	c.3621G>T	c.(3619-3621)GAG>GAT	p.E1207D	DYSF_uc010feg.2_Missense_Mutation_p.E1238D|DYSF_uc010feh.2_Missense_Mutation_p.E1193D|DYSF_uc002sig.3_Missense_Mutation_p.E1193D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1207D|DYSF_uc010fef.2_Missense_Mutation_p.E1224D|DYSF_uc010fei.2_Missense_Mutation_p.E1224D|DYSF_uc010fek.2_Missense_Mutation_p.E1225D|DYSF_uc010fej.2_Missense_Mutation_p.E1194D|DYSF_uc010fel.2_Missense_Mutation_p.E1194D|DYSF_uc010feo.2_Missense_Mutation_p.E1239D|DYSF_uc010fem.2_Missense_Mutation_p.E1208D|DYSF_uc010fen.2_Missense_Mutation_p.E1225D|DYSF_uc002sif.2_Missense_Mutation_p.E1208D|DYSF_uc010yqy.1_Missense_Mutation_p.E88D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1207	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCTTCTACGAGATCGAGATCT	0.567		NA											29	55					5.46e-16	7.72e-16	1	0
DCTN1	1639	broad.mit.edu	37	2	74594514	74594514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:74594514C>G	uc002skx.2	-	19	2529	c.2218G>C	c.(2218-2220)GAG>CAG	p.E740Q	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.E606Q|DCTN1_uc002sku.2_Missense_Mutation_p.E606Q|DCTN1_uc002skw.1_Missense_Mutation_p.E716Q|DCTN1_uc010ffd.2_Missense_Mutation_p.E720Q|DCTN1_uc002sky.2_Missense_Mutation_p.E703Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	740					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GTACAGTCCTCAGGCTGTTCG	0.527		NA											18	37					0	0	0	0
FAM176A	84141	broad.mit.edu	37	2	75720464	75720464	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:75720464C>A	uc002sni.2	-	4	835	c.357G>T	c.(355-357)GAG>GAT	p.E119D	FAM176A_uc002snj.1_Missense_Mutation_p.E106D|FAM176A_uc002snk.1_Missense_Mutation_p.E119D	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	119					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						GCTGGGCGCGCTCCAGCTCCT	0.612		NA											24	55					1.97e-08	2.51e-08	1	0
REG3A	5068	broad.mit.edu	37	2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:79384406C>A	uc002sod.1	-	5	729	c.474G>T	c.(472-474)TGG>TGT	p.W158C	REG3A_uc002soe.1_Missense_Mutation_p.W158C|REG3A_uc002sof.1_Missense_Mutation_p.W158C	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						TATAATCTTTCCACCTCAGAA	0.458		NA											19	35					3.52e-12	4.76e-12	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136849	80136849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:80136849C>A	uc010ysh.1	+	6	987	c.982C>A	c.(982-984)CGC>AGC	p.R328S	CTNNA2_uc010yse.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysf.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysg.1_Missense_Mutation_p.R328S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	328					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						AGACGACCGGCGCGAGAGGAT	0.637		NA											27	94					4.23e-11	5.67e-11	1	0
SH2D6	284948	broad.mit.edu	37	2	85662935	85662935	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:85662935G>C	uc002spq.2	+	3	560	c.399G>C	c.(397-399)AGG>AGC	p.R133S	SH2D6_uc002spo.2_RNA|SH2D6_uc002spp.2_RNA	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	133	SH2.									central_nervous_system(1)	1						GGGAGGGCAGGAACCGTGAGG	0.637		NA											5	5					0	0	0	0
MERTK	10461	broad.mit.edu	37	2	112751909	112751909	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:112751909A>G	uc002thk.1	+	9	1500	c.1378A>G	c.(1378-1380)AGG>GGG	p.R460G	MERTK_uc002thl.1_Missense_Mutation_p.R284G	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	460	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						GTGCACAGTGAGGATTGCAGC	0.527		NA											55	125					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547524	125547524	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:125547524C>A	uc002tno.2	+	18	3159	c.2795C>A	c.(2794-2796)TCC>TAC	p.S932Y	CNTNAP5_uc010flu.2_Missense_Mutation_p.S933Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	932	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCATTCGCTCCTTACACTTG	0.493		NA											26	41					1.18e-14	1.65e-14	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542404	133542404	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:133542404C>G	uc002ttp.2	-	14	2354	c.1980G>C	c.(1978-1980)AGG>AGC	p.R660S	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	660							protein binding				0						CTGAAGAAGTCCTTTTTACAA	0.443		NA											31	89					0	0	0	0
GALNT13	114805	broad.mit.edu	37	2	155157934	155157934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:155157934G>T	uc002tyr.3	+	9	1555	c.988G>T	c.(988-990)GGA>TGA	p.G330*	GALNT13_uc002tyt.3_Nonsense_Mutation_p.G330*|GALNT13_uc010foc.1_Nonsense_Mutation_p.G149*|GALNT13_uc010fod.2_Nonsense_Mutation_p.G83*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	330	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TTGGCAATGTGGAGGCTCCTT	0.403		NA											51	131					1.4e-22	2.06e-22	1	0
DHRS9	10170	broad.mit.edu	37	2	169938164	169938164	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:169938164G>A	uc002uep.2	+	5	1577	c.73G>A	c.(73-75)GAA>AAA	p.E25K	DHRS9_uc002ueq.2_Missense_Mutation_p.E25K|DHRS9_uc010zdc.1_Missense_Mutation_p.E85K|DHRS9_uc002uer.1_Missense_Mutation_p.E25K|DHRS9_uc010zdd.1_Missense_Mutation_p.E25K|DHRS9_uc010zde.1_Missense_Mutation_p.E25K	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	25					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						ACTAAAGATTGAAGACATCAC	0.418		NA											24	59					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179470318	179470318	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179470318G>T	uc010zfg.1	-	228	46224	c.46000C>A	c.(46000-46002)CGG>AGG	p.R15334R	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R9029R|TTN_uc010zfi.1_Silent_p.R8962R|TTN_uc010zfj.1_Silent_p.R8837R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16261							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATGACGCCGTTTTTCAATG	0.433		NA											26	97					4.6e-10	6.07e-10	1	0
TTN	7273	broad.mit.edu	37	2	179534147	179534147	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179534147T>G	uc010zfk.1	-	5	568	c.20A>C	c.(19-21)CAA>CCA	p.Q7P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTTCTTGAACACTTTT	0.289		NA											4	4					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179556770	179556770	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179556770T>C	uc010zfg.1	-	118	28227	c.28003A>G	c.(28003-28005)AAG>GAG	p.K9335E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5996E|TTN_uc010fre.1_Missense_Mutation_p.K446E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10262							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTTCTTAGGCACAGGA	0.458		NA											18	43					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179597011	179597011	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179597011T>A	uc010zfg.1	-	54	13177	c.12953A>T	c.(12952-12954)CAG>CTG	p.Q4318L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q979L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5245							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGCTAGCTGGGTGGCATC	0.403		NA											55	112					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179639041	179639041	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179639041C>A	uc010zfg.1	-	30	7174	c.6950G>T	c.(6949-6951)CGT>CTT	p.R2317L	TTN_uc010zfh.1_Missense_Mutation_p.R2271L|TTN_uc010zfi.1_Missense_Mutation_p.R2271L|TTN_uc010zfj.1_Missense_Mutation_p.R2271L|TTN_uc002unb.2_Missense_Mutation_p.R2317L|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2317							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGTCCACGACGAGATGTAAT	0.408		NA											34	88					3.63e-18	5.24e-18	1	0
ITGA4	3676	broad.mit.edu	37	2	182392030	182392030	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:182392030A>G	uc002unu.2	+	22	3109	c.2346A>G	c.(2344-2346)GTA>GTG	p.V782V	ITGA4_uc010frj.1_Silent_p.V264V|ITGA4_uc002unv.2_Silent_p.V27V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	782	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCAGGTTTGTAAACCCAACTT	0.299		NA											3	34					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196749473	196749473	+	Silent	SNP	A	A	G	rs149685696	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:196749473A>G	uc002utj.3	-	35	5700	c.5599T>C	c.(5599-5601)TTG>CTG	p.L1867L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1867					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTAAATTTCAATCGATCATCA	0.358		NA											11	34					0	0	0	0
PARD3B	117583	broad.mit.edu	37	2	205986412	205986412	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:205986412G>A	uc002var.1	+	8	1111	c.904G>A	c.(904-906)GGC>AGC	p.G302S	PARD3B_uc010fub.1_Missense_Mutation_p.G302S|PARD3B_uc002vao.1_Missense_Mutation_p.G302S|PARD3B_uc002vap.1_Missense_Mutation_p.G302S|PARD3B_uc002vaq.1_Missense_Mutation_p.G302S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	302					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTCAGTCATTGGCTCTCTTAA	0.463		NA											34	38					0	0	0	0
MDH1B	130752	broad.mit.edu	37	2	207620081	207620081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:207620081C>T	uc002vbs.2	-	5	617	c.562G>A	c.(562-564)GCA>ACA	p.A188T	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.A188T|MDH1B_uc010fuj.2_Missense_Mutation_p.A90T|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	188					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACGGGAGATGCCAGGTCTTGG	0.532		NA											17	31					0	0	0	0
CRYGB	1419	broad.mit.edu	37	2	209010545	209010545	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209010545A>G	uc002vcp.3	-	2	238	c.205T>C	c.(205-207)TGG>CGG	p.W69R		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	69	Beta/gamma crystallin 'Greek key' 2.	Susceptible to oxidation.			visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGCCCATCCATTGCTGGTAG	0.572		NA											21	44					0	0	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209153476	209153476	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209153476A>G	uc002vcz.2	+	7	1003	c.845A>G	c.(844-846)AAT>AGT	p.N282S	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.N282S|PIKFYVE_uc002vcv.2_Missense_Mutation_p.N185S|PIKFYVE_uc002vcw.2_Missense_Mutation_p.N282S|PIKFYVE_uc002vcx.2_Missense_Mutation_p.N196S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	282					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GATTCCTCAAATACTCCTCTT	0.358		NA											19	29					0	0	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279485	217279485	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:217279485G>T	uc002vgc.3	+	3	388	c.58G>T	c.(58-60)GCT>TCT	p.A20S	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.A20S|SMARCAL1_uc010fvg.2_Missense_Mutation_p.A20S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	20	Potential.				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)		TCGACAAAAGGCTCTGGCCCG	0.493		NA							Schimke_Immuno-Osseous_Dysplasia				53	75					6.82e-30	1.02e-29	1	0
ProSAPiP1	9762	broad.mit.edu	37	20	3147647	3147647	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:3147647C>A	uc002wia.1	-	1	1561	c.163G>T	c.(163-165)GTG>TTG	p.V55L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.V55L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	55						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CGGGTACCCACGCTCTTCATG	0.736		NA											11	12					1.59e-06	1.93e-06	1	0
TPX2	22974	broad.mit.edu	37	20	30363782	30363782	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:30363782G>A	uc002wwp.1	+	8	1419	c.721G>A	c.(721-723)GCT>ACT	p.A241T	TPX2_uc010gdv.1_Missense_Mutation_p.A241T	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	241					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTTGCTCTGGCTGGAATAGG	0.388		NA											33	42					0	0	0	0
GHRH	2691	broad.mit.edu	37	20	35885221	35885221	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:35885221A>T	uc002xgr.2	-	1	72	c.72T>A	c.(70-72)CCT>CCA	p.P24P	GHRH_uc002xgs.2_Silent_p.P24P|GHRH_uc002xgt.2_Silent_p.P24P	NM_021081	NP_066567	P01286	SLIB_HUMAN	growth hormone releasing hormone preproprotein	24					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			ovary(1)	1		Myeloproliferative disorder(115;0.00878)				TGAGGGTCAAAGGGGGAGGTG	0.602		NA											10	36					0	0	0	0
MAFB	9935	broad.mit.edu	37	20	39316726	39316726	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:39316726G>C	uc002xji.2	-	1	1151	c.765C>G	c.(763-765)TGC>TGG	p.C255W		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	255	Basic motif.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				GTTTATACCTGCAAGACTGGG	0.622		NA	T	IGH@	MM								31	31					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	40735527	40735527	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:40735527T>C	uc002xkg.2	-	24	3473	c.3289A>G	c.(3289-3291)ATT>GTT	p.I1097V	PTPRT_uc010ggj.2_Missense_Mutation_p.I1116V|PTPRT_uc010ggi.2_Missense_Mutation_p.I300V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1097	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGGTGTCAATGGCAATGAAG	0.582		NA											53	34					0	0	0	0
ADA	100	broad.mit.edu	37	20	43251265	43251265	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:43251265C>A	uc002xmj.2	-	9	937	c.809G>T	c.(808-810)GGT>GTT	p.G270V	ADA_uc010ggt.2_Intron	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	270					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTTCCAGGCACCAGTGAGGTA	0.592		NA							Adenosine_Deaminase_Deficiency				20	14					4.35e-09	5.63e-09	1	0
NEURL2	140825	broad.mit.edu	37	20	44519214	44519214	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44519214T>C	uc002xqg.1	-	1	688	c.417A>G	c.(415-417)CCA>CCG	p.P139P	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	139	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				CGAGGAGGGTTGGAGGTCGGC	0.701		NA											28	20					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685832	44685832	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44685832T>A	uc010zxl.1	+	25	3294	c.3218T>A	c.(3217-3219)ATG>AAG	p.M1073K	SLC12A5_uc002xrb.2_Missense_Mutation_p.M1050K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	1073	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGCGGCGCATGCACACGGCC	0.637		NA											50	39					0	0	0	0
DOK5	55816	broad.mit.edu	37	20	53260098	53260098	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:53260098A>G	uc002xwy.2	+	7	1057	c.837A>G	c.(835-837)GGA>GGG	p.G279G	DOK5_uc010gin.2_Silent_p.G171G|DOK5_uc002xwz.2_Silent_p.G141G	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	279							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			ACAGCACGGGACAGCTCTACC	0.652		NA											10	45					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22746287	22746287	+	Silent	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:22746287A>C	uc002yld.1	+	9	1398	c.1149A>C	c.(1147-1149)GCA>GCC	p.A383A	NCAM2_uc011acb.1_Silent_p.A241A|NCAM2_uc011acc.1_Silent_p.A408A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	383	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAGCTGCAAGCAGAATTG	0.393		NA											12	43					0	0	0	0
SON	6651	broad.mit.edu	37	21	34923211	34923211	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:34923211G>T	uc002yse.1	+	3	1723	c.1674G>T	c.(1672-1674)CTG>CTT	p.L558L	SON_uc002ysb.1_Silent_p.L558L|SON_uc002ysc.2_Silent_p.L558L|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	558					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						CGACAGCGCTGGAGTTGCCGG	0.647		NA											25	82					2.22e-12	3.02e-12	1	0
DSCAM	1826	broad.mit.edu	37	21	41450794	41450794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:41450794G>T	uc002yyq.1	-	26	4983	c.4531C>A	c.(4531-4533)CTA>ATA	p.L1511I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1511	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTAGTGTGAAGGAG	0.557		NA											8	28					0.000157383	0.000179846	1	0
FTCD	10841	broad.mit.edu	37	21	47557204	47557204	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:47557204G>A	uc002zif.2	-	13	1532	c.1488C>T	c.(1486-1488)TTC>TTT	p.F496F	FTCD_uc002zie.2_RNA|FTCD_uc002zig.2_Silent_p.F496F|FTCD_uc002zih.2_Silent_p.F496F|FTCD_uc010gqf.2_Nonsense_Mutation_p.Q482*|FTCD_uc010gqg.1_Silent_p.F365F	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	496	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TGAGCACGTTGAAATATGCGC	0.607		NA											45	131					0	0	0	0
CECR6	27439	broad.mit.edu	37	22	17601355	17601355	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:17601355G>T	uc002zmb.2	-	1	859	c.663C>A	c.(661-663)GCC>GCA	p.A221A	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	221											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGTCGGTGACGGCGATGAGGT	0.706		NA											4	20					0.00909568	0.00976828	1	0
DGCR14	8220	broad.mit.edu	37	22	19121856	19121856	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:19121856G>T	uc002zou.2	-	10	1321	c.1284C>A	c.(1282-1284)CTC>CTA	p.L428L	DGCR14_uc002zot.2_Silent_p.L349L|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	428					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CCGGGGTCTTGAGGTGGGTGG	0.687		NA											10	30					7.48e-07	9.15e-07	1	0
ADORA2A	135	broad.mit.edu	37	22	24829704	24829704	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:24829704G>T	uc002zzx.2	+	4	1095	c.332G>T	c.(331-333)CGG>CTG	p.R111L	ADORA2A_uc002zzy.3_Missense_Mutation_p.R111L|ADORA2A_uc011ajs.1_Intron|C22orf45_uc003aaa.1_5'Flank|ADORA2A_uc010guo.1_3'UTR|ADORA2A_uc010gup.2_Missense_Mutation_p.R111L|ADORA2A_uc010guq.2_Missense_Mutation_p.R111L|ADORA2A_uc003aab.2_Missense_Mutation_p.R111L|ADORA2A_uc003aac.2_5'UTR	NM_000675	NP_000666	P29274	AA2AR_HUMAN	adenosine A2a receptor	111	Cytoplasmic.				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding				0	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATCCCGCTCCGGTGAGCAGGG	0.622		NA											10	46					1.09e-07	1.36e-07	1	0
MYO18B	84700	broad.mit.edu	37	22	26422934	26422934	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:26422934G>T	uc003abz.1	+	43	7244	c.6994G>T	c.(6994-6996)GAC>TAC	p.D2332Y	MYO18B_uc003aca.1_Missense_Mutation_p.D2213Y|MYO18B_uc010guy.1_Missense_Mutation_p.D2214Y|MYO18B_uc010guz.1_Missense_Mutation_p.D2212Y|MYO18B_uc011aka.1_Missense_Mutation_p.D1486Y|MYO18B_uc011akb.1_Missense_Mutation_p.D1845Y|MYO18B_uc010gva.1_Missense_Mutation_p.D315Y|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CATCTCTTCAGACGGTGTTGG	0.557		NA											18	67					1.03e-11	1.39e-11	1	0
EWSR1	2130	broad.mit.edu	37	22	29684763	29684763	+	Missense_Mutation	SNP	G	G	T	rs71329463		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:29684763G>T	uc003aet.2	+	8	1290	c.962G>T	c.(961-963)CGC>CTC	p.R321L	EWSR1_uc003aes.3_Missense_Mutation_p.R321L|EWSR1_uc003aev.2_Missense_Mutation_p.R327L|EWSR1_uc003aew.2_Missense_Mutation_p.R265L|EWSR1_uc003aex.2_Missense_Mutation_p.R321L|EWSR1_uc003aey.2_Missense_Mutation_p.R116L|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	321	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						GGAGGAGGACGCGGTGGAATG	0.512		NA	T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								4	19					0.00909568	0.00976828	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951150	30951150	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:30951150G>A	uc003aig.1	-	4	1202	c.1062C>T	c.(1060-1062)GCC>GCT	p.A354A	GAL3ST1_uc003aih.1_Silent_p.A354A|GAL3ST1_uc003aii.1_Silent_p.A354A|GAL3ST1_uc010gvz.1_Silent_p.A354A	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	354	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GGATGGCGGCGGCGTCCACGG	0.716		NA											19	39					0	0	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651265	32651265	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:32651265G>C	uc003ami.2	-	1	54	c.52C>G	c.(52-54)CCA>GCA	p.P18A		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	18	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TCAGACAATGGAGGTGGCTCT	0.522		NA									OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	71	209					0	0	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525169	42525169	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:42525169T>C	uc003bce.2	-	3	461	c.371A>G	c.(370-372)TAT>TGT	p.Y124C	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	124							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						CGCGGGCCCATAGCGCGCCAG	0.682		NA											19	33					0	0	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015836	43015836	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:43015836G>C	uc003bcz.2	-	9	933	c.849C>G	c.(847-849)GCC>GCG	p.A283A	CYB5R3_uc010gzc.1_Silent_p.A157A|CYB5R3_uc003bcw.2_Silent_p.A273A|CYB5R3_uc011aps.1_Silent_p.A316A|CYB5R3_uc003bcy.2_Silent_p.A260A|CYB5R3_uc003bcx.2_Silent_p.A260A	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	283					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	TGGGAAGGCAGGCGTACTGGA	0.682		NA											6	17					0	0	0	0
IL17REL	400935	broad.mit.edu	37	22	50439538	50439538	+	Missense_Mutation	SNP	G	G	C	rs147243670		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:50439538G>C	uc003bje.1	-	4	314	c.82C>G	c.(82-84)CGT>GGT	p.R28G		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	28										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCGTACACGCAGGAGCATC	0.652		NA											8	14					0	0	0	0
CHKB	1120	broad.mit.edu	37	22	51018496	51018496	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:51018496C>G	uc003bms.2	-	8	1052	c.834G>C	c.(832-834)GGG>GGC	p.G278G	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.G69G|CHKB-CPT1B_uc003bmu.2_Silent_p.G157G|CHKB_uc003bmv.2_Silent_p.G278G|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	278					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AAAAATGGTTCCCAATGTCAA	0.493		NA											37	104					0	0	0	0
GRIP2	80852	broad.mit.edu	37	3	14555833	14555833	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:14555833A>C	uc011avi.1	-	13	1754	c.1754T>G	c.(1753-1755)GTG>GGG	p.V585G	GRIP2_uc010heh.2_5'Flank|GRIP2_uc011avh.1_Missense_Mutation_p.V116G	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	487	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GATGAAGCACACGAGGGGTGG	0.602		NA											3	3					0	0	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:25835674G>A	uc003cdn.2	+	3	1176	c.1069G>A	c.(1069-1071)GCT>ACT	p.A357T	OXSM_uc011awp.1_Missense_Mutation_p.A82T|OXSM_uc010hfh.2_Missense_Mutation_p.A274T	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						ATTGGGAGATGCTGCTGAAAA	0.453		NA											18	21					0	0	0	0
DCLK3	85443	broad.mit.edu	37	3	36779796	36779796	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:36779796C>A	uc003cgi.2	-	2	846	c.355G>T	c.(355-357)GCA>TCA	p.A119S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	119						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TCTCCCCTTGCGTGCCTCTCT	0.567		NA											54	109					6.3e-33	9.46e-33	1	0
XIRP1	165904	broad.mit.edu	37	3	39228156	39228156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:39228156C>A	uc003cjk.1	-	2	3002	c.2781G>T	c.(2779-2781)CAG>CAT	p.Q927H	XIRP1_uc003cji.2_Missense_Mutation_p.Q927H|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	927							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCCAACAGCTGCACGCTGC	0.647		NA											26	40					1.79e-09	2.32e-09	1	0
ZNF621	285268	broad.mit.edu	37	3	40570897	40570897	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:40570897G>C	uc003ckm.2	+	3	328	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	ZNF621_uc003ckn.2_Missense_Mutation_p.E38Q|ZNF621_uc003cko.2_Intron|ZNF621_uc011aze.1_Intron	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGTACGGGGAGGTGATGCT	0.527		NA											44	91					0	0	0	0
ARIH2	10425	broad.mit.edu	37	3	49020700	49020700	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49020700C>G	uc003cvb.2	+	16	1791	c.1479C>G	c.(1477-1479)ACC>ACG	p.T493T	ARIH2_uc003cvc.2_Silent_p.T493T|ARIH2_uc003cvf.2_Silent_p.T411T|ARIH2_uc010hkl.2_Silent_p.T411T	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	493					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATGACACCTAAGTTGGGA	0.547		NA											49	125					0	0	0	0
BSN	8927	broad.mit.edu	37	3	49691751	49691751	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49691751C>G	uc003cxe.3	+	5	4876	c.4762C>G	c.(4762-4764)CAG>GAG	p.Q1588E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1588					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACTGAAACCCAGCCCACCAC	0.627		NA											18	33					0	0	0	0
SEMA3B	7869	broad.mit.edu	37	3	50314079	50314079	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:50314079G>A	uc003cyu.2	+	19	2434	c.2192G>A	c.(2191-2193)AGG>AAG	p.R731K	SEMA3B_uc003cyt.2_Missense_Mutation_p.R730K|SEMA3B_uc003cyv.2_Missense_Mutation_p.R618K|SEMA3B_uc003cyw.2_Missense_Mutation_p.R454K|SEMA3B_uc010hli.2_Missense_Mutation_p.R623K|SEMA3B_uc003cyx.2_Missense_Mutation_p.R617K|SEMA3B_uc003cyy.2_Missense_Mutation_p.R388K|SEMA3B_uc011bdo.1_Missense_Mutation_p.R388K|C3orf45_uc003cyz.2_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	731	Arg-rich (basic).				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTAACCGGAGGACCCACGCC	0.721		NA											3	9					0	0	0	0
DNAH1	25981	broad.mit.edu	37	3	52428568	52428568	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52428568C>A	uc011bef.1	+	67	10975	c.10714C>A	c.(10714-10716)CGA>AGA	p.R3572R	DNAH1_uc003ddv.2_Silent_p.R430R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGGCTTGGCGAGACATCCT	0.572		NA											11	31					3.07e-06	3.68e-06	1	0
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52857966C>T	uc003dfz.2	-	10	1262	c.1226G>A	c.(1225-1227)CGG>CAG	p.R409Q	ITIH4_uc011bel.1_Missense_Mutation_p.R139Q|ITIH4_uc003dfy.2_Missense_Mutation_p.R273Q|ITIH4_uc011bem.1_Missense_Mutation_p.R409Q|ITIH4_uc011ben.1_Missense_Mutation_p.R409Q	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	409	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582		NA											17	23					0	0	0	0
CNTN3	5067	broad.mit.edu	37	3	74347306	74347306	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:74347306C>G	uc003dpm.1	-	17	2283	c.2203G>C	c.(2203-2205)GGG>CGG	p.G735R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	735	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACAACATACCCAAAACCTTCA	0.458		NA											8	24					0	0	0	0
VGLL3	389136	broad.mit.edu	37	3	87018113	87018113	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:87018113C>A	uc003dqn.2	-	3	928	c.564G>T	c.(562-564)CCG>CCT	p.P188P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGTTGTGTCCCGGCCAAGGAC	0.597		NA											37	50					8.74e-17	1.25e-16	1	0
OR5K4	403278	broad.mit.edu	37	3	98072954	98072954	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:98072954T>A	uc011bgv.1	+	1	257	c.257T>A	c.(256-258)TTT>TAT	p.F86Y		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GAGAATTTCTTTTCTGAGGAT	0.438		NA											115	268					0	0	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270064	108270064	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:108270064T>C	uc003dxb.3	-	21	2919	c.2650A>G	c.(2650-2652)ATG>GTG	p.M884V		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	884						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						ATTGCTATCATGTGGGAGTGT	0.378		NA											10	45					0	0	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783841	127783841	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:127783841C>T	uc003ekb.2	+	8	922	c.738C>T	c.(736-738)ATC>ATT	p.I246I	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Silent_p.I193I|SEC61A1_uc003ekd.2_Silent_p.I126I|SEC61A1_uc003ekg.2_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	246	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TGAATCTCATCGCCACCATCT	0.512		NA											31	115					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129304823	129304823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129304823G>A	uc003emx.2	-	5	1923	c.1823C>T	c.(1822-1824)TCC>TTC	p.S608F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	608	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane		p.S608S(1)		large_intestine(1)	1						ATCGATCTCGGAAGGCAGGAC	0.657		NA											10	213					0	0	0	0
TMCC1	23023	broad.mit.edu	37	3	129389575	129389575	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129389575C>A	uc003emz.3	-	5	1610	c.1109G>T	c.(1108-1110)AGA>ATA	p.R370I	TMCC1_uc003emy.3_Missense_Mutation_p.R46I|TMCC1_uc011blc.1_Missense_Mutation_p.R191I|TMCC1_uc010htg.2_Missense_Mutation_p.R256I	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane				skin(1)	1						GGCAATCTCTCTGGGCTTTGA	0.527		NA											17	51					4.75e-09	6.13e-09	1	0
EPHB1	2047	broad.mit.edu	37	3	134911580	134911580	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:134911580G>T	uc003eqt.2	+	11	2265	c.2045G>T	c.(2044-2046)CGC>CTC	p.R682L	EPHB1_uc003equ.2_Missense_Mutation_p.R243L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	682	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						AACATCATTCGCCTGGAGGGT	0.537		NA											21	38					7.92e-27	1.18e-26	1	0
DBR1	51163	broad.mit.edu	37	3	137881194	137881194	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:137881194T>A	uc003erv.2	-	8	1308	c.1172A>T	c.(1171-1173)CAT>CTT	p.H391L	DBR1_uc003eru.2_Missense_Mutation_p.H340L|DBR1_uc003ert.2_Missense_Mutation_p.H159L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	391						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						ACCACACACATGATGTTCTTC	0.408		NA											15	36					0	0	0	0
TRPC1	7220	broad.mit.edu	37	3	142523472	142523472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:142523472G>C	uc003evc.2	+	12	2290	c.2154G>C	c.(2152-2154)AAG>AAC	p.K718N	TRPC1_uc003evb.2_Missense_Mutation_p.K684N	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	718					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ACAGTTTAAAGGTAAGAAATT	0.303		NA											12	35					0	0	0	0
ZIC1	7545	broad.mit.edu	37	3	147131245	147131245	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:147131245G>T	uc003ewe.2	+	3	1970	c.1251G>T	c.(1249-1251)CCG>CCT	p.P417P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	417	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAGACAACCCGACCACAAGCT	0.592		NA											17	98					2.58e-16	3.68e-16	1	0
CLRN1	7401	broad.mit.edu	37	3	150659511	150659511	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:150659511G>T	uc003eyk.1	-	2	582	c.291C>A	c.(289-291)ATC>ATA	p.I97I	CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Silent_p.I21I|CLRN1_uc010hvj.1_RNA	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	97					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATTGACGTGGATGCTCACTG	0.393		NA											10	22					0.000673444	0.000753027	1	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	G	rs145734588	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:164725726C>G	uc003fei.2	-	36	4302	c.4240G>C	c.(4240-4242)GAA>CAA	p.E1414Q		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1414	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.244		NA								HNSCC(35;0.089)			23	48					0	0	0	0
BCHE	590	broad.mit.edu	37	3	165548790	165548790	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:165548790C>A	uc003fem.3	-	2	192	c.32G>T	c.(31-33)AGA>ATA	p.R11I	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	11					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAGAGAAATCTGATGCATAT	0.333		NA											10	22					0.000673444	0.000753027	1	0
SKIL	6498	broad.mit.edu	37	3	170078601	170078601	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170078601G>T	uc003fgu.2	+	2	1194	c.482G>T	c.(481-483)GGA>GTA	p.G161V	SKIL_uc011bps.1_Missense_Mutation_p.G141V|SKIL_uc003fgv.2_Missense_Mutation_p.G161V|SKIL_uc003fgw.2_Missense_Mutation_p.G161V	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	161					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTTGGAGGAGAAAAGAGA	0.418		NA											32	98					5.6e-13	7.71e-13	1	0
TNIK	23043	broad.mit.edu	37	3	170945955	170945955	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170945955C>A	uc003fhh.2	-	3	524	c.179G>T	c.(178-180)GGG>GTG	p.G60V	TNIK_uc003fhi.2_Missense_Mutation_p.G60V|TNIK_uc003fhj.2_Missense_Mutation_p.G60V|TNIK_uc003fhk.2_Missense_Mutation_p.G60V|TNIK_uc003fhl.2_Missense_Mutation_p.G60V|TNIK_uc003fhm.2_Missense_Mutation_p.G60V|TNIK_uc003fhn.2_Missense_Mutation_p.G60V|TNIK_uc003fho.2_Missense_Mutation_p.G60V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	60	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACACTTACCCCTGTGACATC	0.274		NA											15	51					4.75e-09	6.13e-09	1	0
FGFRL1	53834	broad.mit.edu	37	4	1018993	1018993	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1018993A>T	uc003gce.2	+	7	1534	c.1373A>T	c.(1372-1374)CAC>CTC	p.H458L	FGFRL1_uc003gcf.2_Missense_Mutation_p.H458L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H458L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H458L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	458	Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCCAGCACTTACTGGGC	0.498		NA											6	19					0	0	0	0
LETM1	3954	broad.mit.edu	37	4	1827372	1827372	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1827372C>A	uc003gdv.2	-	7	1416	c.1119G>T	c.(1117-1119)AAG>AAT	p.K373N		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	373	Mitochondrial matrix (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAGCTCCTTGACATTCA	0.577		NA											12	37					3.07e-06	3.68e-06	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6107640	6107640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:6107640G>T	uc003giu.3	-	3	460	c.184C>A	c.(184-186)CAG>AAG	p.Q62K	JAKMIP1_uc010idb.1_Missense_Mutation_p.Q62K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.Q62K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.Q62K|JAKMIP1_uc010ide.2_Missense_Mutation_p.Q62K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	62	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TGCCGTCGCTGCTCCTGCTCG	0.602		NA											20	35					5.26e-13	7.25e-13	1	0
SLIT2	9353	broad.mit.edu	37	4	20493400	20493400	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:20493400G>C	uc003gpr.1	+	9	996	c.792G>C	c.(790-792)ATG>ATC	p.M264I	SLIT2_uc003gps.1_Missense_Mutation_p.M264I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	264	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						AGTCATTTATGGCTCCTTCTT	0.403		NA											29	108					0	0	0	0
TBC1D1	23216	broad.mit.edu	37	4	38047458	38047458	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:38047458G>A	uc003gtb.2	+	10	1906	c.1563G>A	c.(1561-1563)CTG>CTA	p.L521L	TBC1D1_uc011byd.1_Silent_p.L521L|TBC1D1_uc010ifd.2_Silent_p.L268L|TBC1D1_uc011byf.1_Silent_p.L392L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	521						nucleus	Rab GTPase activator activity			ovary(1)	1						CCAGAGGCCTGCAGGAACACT	0.443		NA											26	87					0	0	0	0
KLB	152831	broad.mit.edu	37	4	39436011	39436011	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:39436011G>T	uc003gua.2	+	2	1104	c.1007G>T	c.(1006-1008)GGG>GTG	p.G336V	KLB_uc011byj.1_Missense_Mutation_p.G336V	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	336	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CCTATCCATGGGGATGGCGAC	0.468		NA											23	69					1.5e-11	2.02e-11	1	0
COX7B2	170712	broad.mit.edu	37	4	46737052	46737052	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46737052G>A	uc003gxf.2	-	3	338	c.158C>T	c.(157-159)ACA>ATA	p.T53I	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	53	Helical; (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						AAACACCCATGTAGCAACACA	0.433		NA											22	61					0	0	0	0
GABRA4	2557	broad.mit.edu	37	4	46981101	46981101	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46981101C>A	uc003gxg.2	-	3	359	c.220G>T	c.(220-222)GTG>TTG	p.V74L		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	74	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAGTTTTCACTTCTGTAACA	0.343		NA											14	32					1.5e-05	1.76e-05	1	0
NFXL1	152518	broad.mit.edu	37	4	47853907	47853907	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47853907G>T	uc010igh.2	-	21	2651	c.2474C>A	c.(2473-2475)ACA>AAA	p.T825K	NFXL1_uc003gxo.2_Missense_Mutation_p.T150K|NFXL1_uc003gxp.2_Missense_Mutation_p.T825K|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.T825K	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	825	Potential.					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CTTGCACGTTGTGTCACATTC	0.353		NA											18	72					1.16e-05	1.37e-05	1	0
CNGA1	1259	broad.mit.edu	37	4	47939007	47939007	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47939007G>T	uc003gxt.3	-	11	1770	c.1504C>A	c.(1504-1506)CCT>ACT	p.P502T	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.P571T	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	502	cGMP (Potential).|Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TAATCTCCAGGACTGTAGACT	0.438		NA											19	106					5.04e-11	6.73e-11	1	0
SGCB	6443	broad.mit.edu	37	4	52895089	52895089	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:52895089T>A	uc003gzj.2	-	4	490	c.430_splice	c.e4-1	p.I144_splice	SGCB_uc011bzp.1_Splice_Site_p.I74_splice	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta						cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAAAACAATCTTCAAAAAAAA	0.294		NA											8	32					0	0	0	0
USP46	64854	broad.mit.edu	37	4	53494256	53494256	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:53494256C>A	uc003gzn.2	-	3	377	c.192G>T	c.(190-192)TTG>TTT	p.L64F	USP46_uc003gzm.3_Missense_Mutation_p.L57F|USP46_uc011bzr.1_Missense_Mutation_p.L41F|USP46_uc011bzs.1_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	64					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTTGTATGCCAACACATTCT	0.517		NA											14	31					6.72e-11	8.94e-11	1	0
SCFD2	152579	broad.mit.edu	37	4	54179841	54179841	+	Missense_Mutation	SNP	G	G	T	rs138747864		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:54179841G>T	uc003gzu.2	-	3	1231	c.1097C>A	c.(1096-1098)GCG>GAG	p.A366E	SCFD2_uc010igm.2_Missense_Mutation_p.A366E	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	366					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTGCTTGCCGCTTCCACTAG	0.468		NA											15	31					7.93e-07	9.68e-07	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513300	70513300	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:70513300C>T	uc003hem.3	-	1	126	c.63G>A	c.(61-63)GGG>GGA	p.G21G	UGT2A1_uc011caq.1_Silent_p.G21G|UGT2A1_uc010ihu.2_Silent_p.G21G|UGT2A1_uc010iht.2_Silent_p.G21G	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	21	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TCAAAACATTCCCACCAAGAG	0.388		NA											11	25					0	0	0	0
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:74853045G>A	uc003hhj.2	-	3	411	c.331C>T	c.(331-333)CCC>TCC	p.P111S		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	111					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428		NA											22	65					0	0	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650155	78650155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:78650155C>T	uc011ccd.1	-	10	1236	c.1105G>A	c.(1105-1107)GAT>AAT	p.D369N	CNOT6L_uc003hks.2_Missense_Mutation_p.D369N|CNOT6L_uc003hkt.1_Missense_Mutation_p.D212N	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	369					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						AGCTTCACATCAGAATACTCT	0.428		NA											40	95					0	0	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915782	86915782	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:86915782T>C	uc003hpk.2	+	9	1424	c.975T>C	c.(973-975)CAT>CAC	p.H325H	ARHGAP24_uc003hpl.2_Silent_p.H230H|ARHGAP24_uc010ikf.2_Silent_p.H240H|ARHGAP24_uc003hpm.2_Silent_p.H232H	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	325	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTAGCAAACATGATTGCCTCT	0.418		NA											46	125					0	0	0	0
EGF	1950	broad.mit.edu	37	4	110902034	110902034	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:110902034G>A	uc003hzy.3	+	15	2726	c.2274G>A	c.(2272-2274)AAG>AAA	p.K758K	EGF_uc011cfu.1_Silent_p.K716K|EGF_uc011cfv.1_Silent_p.K758K|EGF_uc010imk.2_5'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	758	Extracellular (Potential).|EGF-like 5.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTGCAAAAAGAGGCTTGGAA	0.438		NA											22	90					0	0	0	0
MAML3	55534	broad.mit.edu	37	4	140640738	140640738	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:140640738G>A	uc003ihz.1	-	7	3893	c.3141C>T	c.(3139-3141)AGC>AGT	p.S1047S	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.S515S	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	1048					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GGACTCCCTGGCTCAGGCCAG	0.647		NA											5	31					0	0	0	0
RNF150	57484	broad.mit.edu	37	4	141868813	141868813	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:141868813G>T	uc003iio.1	-	4	1539	c.885C>A	c.(883-885)CCC>CCA	p.P295P	RNF150_uc010iok.1_Silent_p.P253P|RNF150_uc003iip.1_Silent_p.P295P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	295	Cytoplasmic (Potential).|RING-type; atypical.					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					CTCACCGGCAGGGCAGGATCC	0.562		NA											18	69					3.88e-16	5.49e-16	1	0
INPP4B	8821	broad.mit.edu	37	4	143130163	143130163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:143130163C>A	uc003iix.3	-	14	1448	c.853G>T	c.(853-855)GAA>TAA	p.E285*	INPP4B_uc003iiw.3_Nonsense_Mutation_p.E285*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.E100*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.E156*	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	285					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)					TCACCAAGTTCTTTTATCTCC	0.363		NA											10	42					2.27e-07	2.81e-07	1	0
KIAA0922	23240	broad.mit.edu	37	4	154556600	154556600	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:154556600C>T	uc003inm.3	+	34	4483	c.4431C>T	c.(4429-4431)GCC>GCT	p.A1477A	KIAA0922_uc010ipp.2_Silent_p.A1478A|KIAA0922_uc010ipq.2_Silent_p.A1246A	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1477	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TGAACTATGCCAATGGCTTCC	0.438		NA											21	67					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155256021	155256021	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:155256021C>G	uc003inw.2	-	8	1215	c.1215G>C	c.(1213-1215)TTG>TTC	p.L405F	DCHS2_uc003inx.2_Missense_Mutation_p.L904F	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	405	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTACTTACTCAAGGGCTCTC	0.373		NA											23	63					0	0	0	0
NAF1	92345	broad.mit.edu	37	4	164087774	164087774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:164087774G>A	uc003iqj.2	-	1	300	c.106C>T	c.(106-108)CCT>TCT	p.P36S	NAF1_uc010iqw.1_Missense_Mutation_p.P36S|NAF1_uc003iqk.2_RNA	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	36					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGGCACAGGGGCAGAGCCC	0.667		NA											8	18					0	0	0	0
ADAM29	11086	broad.mit.edu	37	4	175896769	175896769	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:175896769G>T	uc003iuc.2	+	5	763	c.93G>T	c.(91-93)CCG>CCT	p.P31P	ADAM29_uc003iud.2_Silent_p.P31P|ADAM29_uc010irr.2_Silent_p.P31P|ADAM29_uc011cki.1_Silent_p.P31P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.P31L(1)		skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGCCCTCCGGATGTGGTGA	0.517		NA											25	54					4.4e-07	5.43e-07	1	0
WDR17	116966	broad.mit.edu	37	4	177056354	177056354	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177056354T>C	uc003iuj.2	+	9	1422	c.1266T>C	c.(1264-1266)GAT>GAC	p.D422D	WDR17_uc003iuk.2_Silent_p.D398D|WDR17_uc003ium.3_Silent_p.D398D|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	422	WD 6.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGTCTGGGATATAAACACAT	0.383		NA											19	37					0	0	0	0
WDR17	116966	broad.mit.edu	37	4	177084375	177084375	+	Missense_Mutation	SNP	A	A	T	rs141454308	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177084375A>T	uc003iuj.2	+	23	3149	c.2993A>T	c.(2992-2994)GAG>GTG	p.E998V	WDR17_uc003iuk.2_Missense_Mutation_p.E974V|WDR17_uc003ium.3_Missense_Mutation_p.E974V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E217V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	998										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTACTAGGAGAGTCTGCAGCA	0.408		NA											24	49					0	0	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076277	1076277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:1076277C>A	uc003jbu.2	-	14	1889	c.1823G>T	c.(1822-1824)CGT>CTT	p.R608L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	608	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGCGTGGACGCCAGTTGGG	0.642		NA											8	14					0.000673444	0.000753027	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146522	5146522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5146522G>T	uc003jdl.2	+	3	593	c.455G>T	c.(454-456)CGA>CTA	p.R152L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R152L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R152L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGCTCTTTGCGATCACACAGA	0.537		NA											38	102					1.59e-26	2.35e-26	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5306737	5306737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5306737C>A	uc003jdl.2	+	21	3445	c.3307C>A	c.(3307-3309)CTG>ATG	p.L1103M		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1103	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GAAGCCCAGCCTGGAGCTGGA	0.562		NA											15	47					1.52e-12	2.07e-12	1	0
ADCY2	108	broad.mit.edu	37	5	7521006	7521006	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:7521006C>A	uc003jdz.1	+	3	631	c.564C>A	c.(562-564)GTC>GTA	p.V188V		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	188	Helical; (Potential).			VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						AGCACCTGGTCTGGCAGGTGG	0.607		NA											18	64					8.34e-07	1.02e-06	1	0
SEMA5A	9037	broad.mit.edu	37	5	9119147	9119147	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9119147C>A	uc003jek.2	-	15	2600	c.1888G>T	c.(1888-1890)GGG>TGG	p.G630W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	630	TSP type-1 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ACCCGGCCCCCGTGCCTGGGA	0.677		NA											20	39					3.52e-12	4.76e-12	1	0
SEMA5A	9037	broad.mit.edu	37	5	9337825	9337825	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9337825C>A	uc003jek.2	-	4	936	c.224G>T	c.(223-225)AGA>ATA	p.R75I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	75	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TATCTCTCACCTTGCTCCTAC	0.423		NA											8	35					0.000274275	0.00031058	1	0
DNAH5	1767	broad.mit.edu	37	5	13758967	13758967	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13758967C>A	uc003jfd.2	-	61	10449	c.10407G>T	c.(10405-10407)ATG>ATT	p.M3469I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3469	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCTTTTCAGTCATGGCCTGTT	0.532		NA							Kartagener_syndrome				57	133					4.88e-21	7.14e-21	1	0
DNAH5	1767	broad.mit.edu	37	5	13786380	13786380	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13786380G>A	uc003jfd.2	-	52	8770	c.8728C>T	c.(8728-8730)CTG>TTG	p.L2910L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2910					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AACATATTCAGACGCTCTTTT	0.428		NA							Kartagener_syndrome				14	48					0	0	0	0
CAPSL	133690	broad.mit.edu	37	5	35910057	35910057	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35910057G>A	uc003jjt.1	-	4	531	c.436C>T	c.(436-438)CCA>TCA	p.P146S	CAPSL_uc003jju.1_Missense_Mutation_p.P146S	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	146	EF-hand 3.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368		NA											28	87					0	0	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965526	35965526	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35965526C>T	uc003jjv.1	-	4	962	c.805G>A	c.(805-807)GGA>AGA	p.G269R	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.G269R|UGT3A1_uc011cor.1_Missense_Mutation_p.G235R|UGT3A1_uc003jjy.1_Missense_Mutation_p.G215R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	269	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAAGCCTCCAATATAAACA	0.428		NA											16	62					0	0	0	0
DAB2	1601	broad.mit.edu	37	5	39381644	39381644	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:39381644G>T	uc003jlx.2	-	11	1947	c.1416C>A	c.(1414-1416)CCC>CCA	p.P472P	DAB2_uc003jlw.2_Silent_p.P451P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	472					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTGTCCTGTGGGTGACGCCT	0.582		NA											32	77					9.65e-13	1.32e-12	1	0
HCN1	348980	broad.mit.edu	37	5	45303729	45303729	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:45303729C>G	uc003jok.2	-	6	1615	c.1590G>C	c.(1588-1590)ATG>ATC	p.M530I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	530	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTGTCAGCTTCATTTCTTTAC	0.353		NA											16	66					0	0	0	0
HSPB3	8988	broad.mit.edu	37	5	53751686	53751686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:53751686C>T	uc003jph.1	+	1	242	c.67C>T	c.(67-69)CGA>TGA	p.R23*		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	23					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				GTTTGAAGCTCGAGGTCTAGA	0.502		NA											31	49					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127782271	127782271	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:127782271C>A	uc003kuu.2	-	7	1294	c.855G>T	c.(853-855)GGG>GGT	p.G285G	FBN2_uc003kuv.2_Silent_p.G252G|FBN2_uc003kuw.3_Silent_p.G285G|FBN2_uc003kux.1_Silent_p.G285G	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	285	EGF-like 4; calcium-binding.				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)		CTTGGCATATCCCTGGGATAG	0.393		NA											20	25					6.45e-10	8.49e-10	1	0
CSF2	1437	broad.mit.edu	37	5	131409633	131409633	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:131409633C>A	uc003kwf.2	+	1	149	c.117C>A	c.(115-117)GCC>GCA	p.A39A		NM_000758	NP_000749	P04141	CSF2_HUMAN	colony stimulating factor 2 precursor	39					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity				0		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCCAGGAGGCCCGGCGTCTCC	0.647		NA											21	45					4.97e-08	6.25e-08	1	0
CATSPER3	347732	broad.mit.edu	37	5	134345142	134345142	+	Silent	SNP	C	C	A	rs142712287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:134345142C>A	uc003lag.2	+	6	966	c.898C>A	c.(898-900)CGG>AGG	p.R300R		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	300					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCTGCAGCGGCAGCAGGA	0.562		NA											31	60					2.14e-07	2.66e-07	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209910	140209910	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:140209910T>A	uc003lho.2	+	1	2261	c.2234T>A	c.(2233-2235)GTG>GAG	p.V745E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.V745E	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	745	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCGCAGTGGGGAGCTGG	0.677		NA											17	32					0	0	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576820	149576820	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:149576820C>A	uc003lrr.2	+	4	936	c.565C>A	c.(565-567)CCC>ACC	p.P189T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	189	Extracellular (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CACCGTCAGCCCCAGCGAGGA	0.652		NA											13	27					0.00136819	0.00151496	1	0
SLC36A2	153201	broad.mit.edu	37	5	150696552	150696552	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:150696552C>T	uc003lty.2	-	10	1408	c.1278G>A	c.(1276-1278)CTG>CTA	p.L426L	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.L228L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	426	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGACCTCCAGGAGCGGTG	0.647		NA											9	17					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176709508	176709508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:176709508G>T	uc003mfr.3	+	19	6073	c.5935G>T	c.(5935-5937)GAA>TAA	p.E1979*	NSD1_uc003mft.3_Nonsense_Mutation_p.E1710*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E1627*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1979	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATAGATGAAGAAGAATGCAG	0.378		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			33	65					5.92e-21	8.63e-21	1	0
NRN1	51299	broad.mit.edu	37	6	5999396	5999396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:5999396G>T	uc003mwu.2	-	3	893	c.242C>A	c.(241-243)ACG>AAG	p.T81K	NRN1_uc003mwt.2_Missense_Mutation_p.T107K	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	81						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTGGCAATCCGTAAGGGCTGT	0.517		NA											12	57					7.93e-07	9.68e-07	1	0
PHACTR1	221692	broad.mit.edu	37	6	13053694	13053694	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:13053694G>A	uc010jpc.2	+	5	680	c.348G>A	c.(346-348)CTG>CTA	p.L116L	PHACTR1_uc011dir.1_Silent_p.L116L|PHACTR1_uc003nag.1_Silent_p.L116L|PHACTR1_uc003nah.1_Silent_p.L116L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	116						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTGCCAACCTGGGAAGGATTT	0.507		NA											8	25					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15497018	15497018	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:15497018C>G	uc003nbj.2	+	7	1806	c.1562C>G	c.(1561-1563)TCC>TGC	p.S521C	JARID2_uc011diu.1_Missense_Mutation_p.S385C|JARID2_uc011div.1_Missense_Mutation_p.S349C|JARID2_uc011diw.1_Missense_Mutation_p.S483C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	521					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GACAGCGCCTCCTGTGAAAAT	0.677		NA											13	41					0	0	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045742	26045742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26045742G>T	uc003nfv.2	+	1	104	c.104G>T	c.(103-105)GGC>GTC	p.G35V	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GCCACCGGTGGCGTGAAGAAA	0.627		NA											15	66					0.000219431	0.000250292	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26046019	26046019	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26046019G>T	uc003nfv.2	+	1	381	c.381G>T	c.(379-381)CTG>CTT	p.L127L	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	127					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						ATATCCAGCTGGCACGTCGCA	0.502		NA											22	47					1.23e-08	1.57e-08	1	0
HIST1H4K	8362	broad.mit.edu	37	6	27799255	27799255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:27799255C>A	uc003njr.2	-	1	51	c.51G>T	c.(49-51)AAG>AAT	p.K17N		NM_003541	NP_003532	P62805	H4_HUMAN	histone cluster 1, H4k	17					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						TACGGTGGCGCTTAGCGCCGC	0.642		NA											11	107					6.45e-10	8.49e-10	1	0
COL11A2	1302	broad.mit.edu	37	6	33133582	33133582	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:33133582G>T	uc003ocx.1	-	63	4722	c.4494C>A	c.(4492-4494)GGC>GGA	p.G1498G	COL11A2_uc010jul.1_Silent_p.G68G|COL11A2_uc003ocy.1_Silent_p.G1412G|COL11A2_uc003ocz.1_Silent_p.G1391G	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1498	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGATCACCTCGCCTGGGGGAC	0.627		NA											17	69					6.94e-10	9.11e-10	1	0
DNAH8	1769	broad.mit.edu	37	6	38867649	38867649	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:38867649C>A	uc003ooe.1	+	60	9110	c.8510C>A	c.(8509-8511)GCT>GAT	p.A2837D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TCTTTTATTGCTGGCTATCAA	0.343		NA											4	18					2.56e-06	3.08e-06	1	0
LRFN2	57497	broad.mit.edu	37	6	40400710	40400710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:40400710G>A	uc003oph.1	-	2	608	c.143C>T	c.(142-144)CCT>CTT	p.P48L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	48	LRRNT.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCAATATCAGGGGGTACAAA	0.612		NA											17	54					0	0	0	0
ENPP5	59084	broad.mit.edu	37	6	46135435	46135435	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46135435C>A	uc003oxz.1	-	2	773	c.565G>T	c.(565-567)GAC>TAC	p.D189Y	ENPP5_uc003oya.1_Missense_Mutation_p.D189Y|ENPP5_uc011dvz.1_Missense_Mutation_p.D95Y|ENPP5_uc010jzc.1_Missense_Mutation_p.D189Y	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	189						extracellular region|integral to membrane	hydrolase activity				0						TCATCAGGGTCTTCCCAATAG	0.418		NA											27	61					3.67e-16	5.21e-16	1	0
RCAN2	10231	broad.mit.edu	37	6	46214500	46214500	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46214500C>T	uc003oyb.1	-	3	733	c.418G>A	c.(418-420)GCC>ACC	p.A140T	RCAN2_uc003oyc.1_Missense_Mutation_p.A186T|RCAN2_uc003oyd.1_Missense_Mutation_p.A186T	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	140					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						CCTAGTTTGGCCACAGCATAG	0.493		NA											8	31					0	0	0	0
GPR111	222611	broad.mit.edu	37	6	47649740	47649740	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:47649740A>G	uc010jzj.1	+	6	1446	c.1445A>G	c.(1444-1446)TAT>TGT	p.Y482C	GPR111_uc010jzk.1_Missense_Mutation_p.Y414C|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	482	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GAGATCACCTATTTACGCCAT	0.463		NA											15	60					0	0	0	0
DST	667	broad.mit.edu	37	6	56489356	56489356	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:56489356T>C	uc003pdf.2	-	35	4830	c.4802A>G	c.(4801-4803)GAT>GGT	p.D1601G	DST_uc003pcz.3_Missense_Mutation_p.D1423G|DST_uc011dxj.1_Missense_Mutation_p.D1452G|DST_uc011dxk.1_Missense_Mutation_p.D1463G|DST_uc003pcy.3_Missense_Mutation_p.D1097G|DST_uc003pdb.2_Missense_Mutation_p.D1097G|DST_uc003pdc.3_Missense_Mutation_p.D1097G|DST_uc003pdd.3_Missense_Mutation_p.D1097G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCAATGAATCACCAGCAAA	0.393		NA											8	35					0	0	0	0
PRIM2	5558	broad.mit.edu	37	6	57512689	57512689	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:57512689G>T	uc003pdx.2	+	15	1604	c.1517G>T	c.(1516-1518)AGT>ATT	p.S506I		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	506					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATTACTTTAGTGAAGATTCT	0.343		NA											39	278					4.07e-28	6.06e-28	1	0
COL9A1	1297	broad.mit.edu	37	6	70952405	70952405	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:70952405T>A	uc003pfg.3	-	29	2045	c.1886A>T	c.(1885-1887)GAA>GTA	p.E629V	COL9A1_uc003pfe.3_Missense_Mutation_p.E202V|COL9A1_uc003pff.3_Missense_Mutation_p.E386V	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	629	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TGGTCCTAATTCTCCTCTACT	0.348		NA											21	48					0	0	0	0
FILIP1	27145	broad.mit.edu	37	6	76023776	76023776	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:76023776C>T	uc003pia.2	-	5	2145	c.1772G>A	c.(1771-1773)TGC>TAC	p.C591Y	FILIP1_uc003phy.1_Missense_Mutation_p.C591Y|FILIP1_uc003phz.2_Missense_Mutation_p.C492Y|FILIP1_uc010kbe.2_Missense_Mutation_p.C594Y|FILIP1_uc003pib.1_Missense_Mutation_p.C343Y	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	591	Potential.									skin(3)|ovary(1)	4						GTCAACACTGCAGCTTAATTC	0.388		NA											37	119					0	0	0	0
SNX14	57231	broad.mit.edu	37	6	86256905	86256905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:86256905C>T	uc003pkr.2	-	12	1226	c.1033G>A	c.(1033-1035)GAT>AAT	p.D345N	SNX14_uc003pkp.2_Missense_Mutation_p.D208N|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.D293N|SNX14_uc003pks.2_Missense_Mutation_p.D301N|SNX14_uc003pkt.2_Missense_Mutation_p.D345N	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	345	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AATAAAAGATCTTGTTGCTCT	0.343		NA											6	12					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90382061	90382061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90382061G>C	uc003pnn.1	-	82	13768	c.13652C>G	c.(13651-13653)TCA>TGA	p.S4551*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4551					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGATGTCCTGATTGCAGTCT	0.413		NA											13	50					0	0	0	0
BACH2	60468	broad.mit.edu	37	6	90718382	90718382	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90718382T>C	uc011eab.1	-	6	991	c.182A>G	c.(181-183)TAT>TGT	p.Y61C	BACH2_uc003pnw.2_Missense_Mutation_p.Y61C|BACH2_uc010kch.2_Missense_Mutation_p.Y61C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	61	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGCCAAAAATATTCACTGCA	0.478		NA											34	59					0	0	0	0
MANEA	79694	broad.mit.edu	37	6	96053988	96053988	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:96053988C>A	uc003poo.1	+	5	1236	c.1096C>A	c.(1096-1098)CGT>AGT	p.R366S		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	366	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAGCATCCGTCCATGGAA	0.418		NA											17	77					7.88e-14	1.09e-13	1	0
GPR63	81491	broad.mit.edu	37	6	97247474	97247474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:97247474C>T	uc010kcl.2	-	3	612	c.134G>A	c.(133-135)AGA>AAA	p.R45K	GPR63_uc003pou.2_Missense_Mutation_p.R45K	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	45	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAAACTATATCTAAGCAATGG	0.453		NA											10	55					0	0	0	0
ASCC3	10973	broad.mit.edu	37	6	101037825	101037825	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101037825T>A	uc003pqk.2	-	35	5743	c.5414A>T	c.(5413-5415)GAG>GTG	p.E1805V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTCATACCTCTCCAATTTC	0.343		NA											9	29					0	0	0	0
ASCC3	10973	broad.mit.edu	37	6	101296082	101296082	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101296082C>G	uc003pqk.2	-	4	1072	c.743G>C	c.(742-744)TGC>TCC	p.C248S	ASCC3_uc011eai.1_Missense_Mutation_p.C150S|ASCC3_uc003pql.2_Missense_Mutation_p.C248S|ASCC3_uc010kcv.2_Missense_Mutation_p.C248S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAAGTACAGCAAAGATCTTC	0.318		NA											9	50					0	0	0	0
POPDC3	64208	broad.mit.edu	37	6	105606590	105606590	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:105606590A>T	uc003prb.2	-	4	1033	c.631T>A	c.(631-633)TCT>ACT	p.S211T	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	211						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTCCAAGACACATATCGA	0.403		NA											61	163					0	0	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107070746	107070746	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:107070746C>T	uc003prj.2	-	2	850	c.373G>A	c.(373-375)GGC>AGC	p.G125S	RTN4IP1_uc010kdd.2_Missense_Mutation_p.G125S|RTN4IP1_uc003prk.2_Missense_Mutation_p.G25S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	125						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATCACCACGCCAGAGACATCC	0.428		NA											9	29					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117710810	117710810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:117710810G>T	uc003pxp.1	-	12	1661	c.1462C>A	c.(1462-1464)CAT>AAT	p.H488N	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	488	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGATGAGATGGGAAGCAGAG	0.433		NA	T	GOPC|ROS1	glioblastoma|NSCLC								21	48					2.55e-18	3.69e-18	1	0
C6orf204	387119	broad.mit.edu	37	6	118887324	118887324	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:118887324T>A	uc003pxz.1	-	3	976	c.388A>T	c.(388-390)ATG>TTG	p.M130L	C6orf204_uc003pya.1_Missense_Mutation_p.M133L|C6orf204_uc003pyb.2_Missense_Mutation_p.M130L|C6orf204_uc011ebj.1_Missense_Mutation_p.M28L|C6orf204_uc003pyc.2_Missense_Mutation_p.M133L|C6orf204_uc011ebl.1_Missense_Mutation_p.M28L	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	130						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		AATGTTTGCATGAGGCTTGTA	0.478		NA											15	82					0	0	0	0
TRDN	10345	broad.mit.edu	37	6	123687329	123687329	+	Splice_Site	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:123687329T>C	uc003pzj.1	-	20	1296	c.1274_splice	c.e20-1	p.K425_splice	TRDN_uc003pzk.1_Splice_Site_p.K426_splice|TRDN_uc003pzl.1_Splice_Site_p.K426_splice|TRDN_uc010kem.1_Splice_Site	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GTTCAGTTTCTGCAAGTTCAG	0.308		NA											5	25					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129380955	129380955	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:129380955G>A	uc003qbn.2	+	3	415	c.310G>A	c.(310-312)GAT>AAT	p.D104N	LAMA2_uc003qbo.2_Missense_Mutation_p.D104N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	104	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATGCTATTGATGGAAAGAA	0.358		NA											10	23					0	0	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762603	130762603	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:130762603C>G	uc003qca.2	+	3	1907	c.1036C>G	c.(1036-1038)CCA>GCA	p.P346A	TMEM200A_uc010kfh.2_Missense_Mutation_p.P346A|TMEM200A_uc010kfi.2_Missense_Mutation_p.P346A|TMEM200A_uc003qcb.2_Missense_Mutation_p.P346A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	346	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CACAGTGCTACCAAGGAATAA	0.517		NA											13	50					0	0	0	0
CTGF	1490	broad.mit.edu	37	6	132270617	132270617	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:132270617G>A	uc003qcz.2	-	5	1043	c.837C>T	c.(835-837)TAC>TAT	p.Y279Y		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	279	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATTTAGCTCGGTATGTCTTCA	0.537		NA											83	307					0	0	0	0
OLIG3	167826	broad.mit.edu	37	6	137815175	137815175	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:137815175C>T	uc003qhp.1	-	1	357	c.133G>A	c.(133-135)GGC>AGC	p.G45S		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATCATATCGCCCTGCGTGGAC	0.512		NA											31	112					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152647563	152647563	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:152647563C>A	uc010kiw.2	-	79	15763	c.15161G>T	c.(15160-15162)AGC>ATC	p.S5054I	SYNE1_uc003qot.3_Missense_Mutation_p.S4983I|SYNE1_uc003qou.3_Missense_Mutation_p.S5054I|SYNE1_uc010kiz.2_Missense_Mutation_p.S809I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5054	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)		GGCTACCAGGCTGTGGAGCTC	0.522		NA								HNSCC(10;0.0054)			20	71					3.52e-12	4.76e-12	1	0
CNKSR3	154043	broad.mit.edu	37	6	154727611	154727611	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:154727611G>A	uc003qpy.2	-	13	2050	c.1545C>T	c.(1543-1545)GCC>GCT	p.A515A		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATGGAATCGTGGCGCTGCTGT	0.582		NA											32	70					0	0	0	0
NOX3	50508	broad.mit.edu	37	6	155718053	155718053	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:155718053T>C	uc003qqm.2	-	13	1727	c.1624A>G	c.(1624-1626)AGG>GGG	p.R542G		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	542	Cytoplasmic (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTGTCCTCGAGAGAGCT	0.468		NA											28	69					0	0	0	0
PLG	5340	broad.mit.edu	37	6	161128796	161128796	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161128796A>G	uc003qtm.3	+	3	313	c.250A>G	c.(250-252)ATA>GTA	p.I84V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	84	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGTCCTCCATAATCATTAG	0.274		NA											47	143					0	0	0	0
PDE10A	10846	broad.mit.edu	37	6	165801917	165801917	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:165801917A>G	uc003qun.2	-	18	1893	c.1652T>C	c.(1651-1653)CTG>CCG	p.L551P	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.L481P|PDE10A_uc003quo.2_Missense_Mutation_p.L561P	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	551					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCATGACACAGACACGCAAT	0.488		NA											25	66					0	0	0	0
GPER	2852	broad.mit.edu	37	7	1132336	1132336	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:1132336C>T	uc010ksd.1	+	2	1361	c.972C>T	c.(970-972)TAC>TAT	p.Y324Y	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.Y324Y|GPER_uc003ska.1_Silent_p.Y324Y|GPER_uc003skb.2_Silent_p.Y324Y	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	324	Helical; Name=7; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CCCTCATCTACAGCTTTCTCG	0.587		NA											55	85					0	0	0	0
FBXL18	80028	broad.mit.edu	37	7	5541042	5541042	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:5541042C>G	uc003soo.2	-	3	952	c.858G>C	c.(856-858)ATG>ATC	p.M286I	FBXL18_uc003son.3_Missense_Mutation_p.M286I	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	286										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CATTGCGCGCCATGGAGTCCA	0.602		NA											21	26					0	0	0	0
PMS2	5395	broad.mit.edu	37	7	6042083	6042083	+	Splice_Site	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:6042083C>T	uc003spl.2	-	5	624	c.537_splice	c.e5+1	p.K179_splice	PMS2_uc003spj.2_Splice_Site_p.K73_splice|PMS2_uc003spk.2_Splice_Site_p.K44_splice|PMS2_uc011jwl.1_Splice_Site_p.K44_splice|PMS2_uc010ktg.2_Splice_Site|PMS2_uc010kte.2_Splice_Site_p.K179_splice|PMS2_uc010ktf.1_Splice_Site_p.K179_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACTGTACCTTCTTAATA	0.408		NA	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				8	146					0	0	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23383461	23383461	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:23383461A>T	uc003swg.2	-	9	1219	c.953T>A	c.(952-954)TTG>TAG	p.L318*	IGF2BP3_uc003swf.2_Intron	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	318	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						ATACAGCGTCAATTCCTGCAA	0.383		NA											27	27					0	0	0	0
CREB5	9586	broad.mit.edu	37	7	28857725	28857725	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:28857725T>A	uc003szq.2	+	10	1682	c.1292T>A	c.(1291-1293)CTG>CAG	p.L431Q	CREB5_uc003szo.2_Missense_Mutation_p.L398Q|CREB5_uc003szr.2_Missense_Mutation_p.L424Q|CREB5_uc003szs.2_Missense_Mutation_p.L292Q	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	431	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GTGGCCCAGCTGAAACAGTTG	0.388		NA											20	78					0	0	0	0
CPVL	54504	broad.mit.edu	37	7	29152338	29152338	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:29152338G>C	uc003szv.2	-	3	389	c.270C>G	c.(268-270)TTC>TTG	p.F90L	CPVL_uc003szw.2_Missense_Mutation_p.F90L|CPVL_uc003szx.2_Missense_Mutation_p.F90L	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	90					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						GGAAGAACCAGAAGAAGAGGT	0.493		NA											34	37					0	0	0	0
C7orf16	10842	broad.mit.edu	37	7	31735160	31735160	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:31735160C>A	uc003tcl.2	+	3	318	c.160C>A	c.(160-162)CTG>ATG	p.L54M	C7orf16_uc011kaf.1_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	54					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)			ACAGGCCACCCTGAATGTTGA	0.423		NA											62	86					8.48e-36	1.28e-35	1	0
BMPER	168667	broad.mit.edu	37	7	34125437	34125437	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:34125437T>G	uc011kap.1	+	13	1592	c.1478T>G	c.(1477-1479)CTC>CGC	p.L493R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	493	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AAGGGCAAGCTCTGTGGTCTT	0.443		NA											32	50					0	0	0	0
MYO1G	64005	broad.mit.edu	37	7	45005293	45005293	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:45005293G>A	uc003tmh.2	-	17	2468	c.2324C>T	c.(2323-2325)CCG>CTG	p.P775L	MYO1G_uc003tmf.2_Missense_Mutation_p.P218L|MYO1G_uc003tmg.2_Missense_Mutation_p.P537L|MYO1G_uc010kym.2_Missense_Mutation_p.P660L	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	775						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						AGGGGGCAGCGGCCACACAAG	0.637		NA											44	43					0	0	0	0
HUS1	3364	broad.mit.edu	37	7	48016391	48016391	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48016391G>A	uc003tod.1	-	4	531	c.401C>T	c.(400-402)CCC>CTC	p.P134L	HUS1_uc003toe.1_Missense_Mutation_p.P134L|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	134					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				CACCTTTATGGGGATGTCATG	0.413		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					73	101					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48411888	48411888	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48411888G>T	uc003toq.2	+	33	10952	c.10927G>T	c.(10927-10929)GCA>TCA	p.A3643S	ABCA13_uc010kys.1_Missense_Mutation_p.A717S|ABCA13_uc003tos.1_Missense_Mutation_p.A469S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3643					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TGGCATCTTTGCACACAGCAA	0.458		NA											68	116					2.5e-33	3.76e-33	1	0
GBAS	2631	broad.mit.edu	37	7	56062652	56062652	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:56062652G>A	uc003tre.1	+	8	691	c.683G>A	c.(682-684)GGG>GAG	p.G228E	GBAS_uc003trf.1_Missense_Mutation_p.G189E	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	228						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCAGATTGGGCAGCTGTAC	0.453		NA											34	662					0	0	0	0
TBL2	26608	broad.mit.edu	37	7	72985558	72985558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:72985558G>A	uc003tyh.2	-	6	973	c.839C>T	c.(838-840)GCG>GTG	p.A280V	TBL2_uc011kex.1_Missense_Mutation_p.A244V|TBL2_uc010lbg.2_Missense_Mutation_p.A185V|TBL2_uc003tyi.2_Missense_Mutation_p.A115V|TBL2_uc011key.1_Missense_Mutation_p.A151V|TBL2_uc010lbh.2_Missense_Mutation_p.A185V	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	280	WD 5.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCACAGCCGCGGAGTGGCC	0.567		NA											15	44					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81346600	81346600	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:81346600C>G	uc003uhl.2	-	11	1518	c.1353G>C	c.(1351-1353)TGG>TGC	p.W451C	HGF_uc003uhm.2_Missense_Mutation_p.W446C	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	451	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CCGTGTAGCACCAGGGTCCAT	0.423		NA											15	48					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82764673	82764673	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82764673C>A	uc003uhx.2	-	3	2482	c.2193G>T	c.(2191-2193)AAG>AAT	p.K731N	PCLO_uc003uhv.2_Missense_Mutation_p.K731N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	677	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGGGGCTGGCTTGGACAAAG	0.537		NA											10	43					0.000442599	0.000499374	1	0
PCLO	27445	broad.mit.edu	37	7	82784850	82784850	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82784850A>G	uc003uhx.2	-	2	1396	c.1107T>C	c.(1105-1107)GCT>GCC	p.A369A	PCLO_uc003uhv.2_Silent_p.A369A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	329	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGGAGGCTTAGCAGGACCAA	0.577		NA											11	36					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590917	83590917	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:83590917T>C	uc003uhz.2	-	17	2401	c.2086A>G	c.(2086-2088)ACA>GCA	p.T696A		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	696					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TGGCTAGGTGTCATGCTATTG	0.438		NA											31	81					0	0	0	0
TECPR1	25851	broad.mit.edu	37	7	97874270	97874270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:97874270G>A	uc003upg.2	-	4	540	c.335C>T	c.(334-336)CCC>CTC	p.P112L	TECPR1_uc003uph.1_Missense_Mutation_p.P33L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	112						integral to membrane	protein binding			pancreas(1)	1						GTGCGGCGAGGGCAGTGCCAC	0.622		NA											8	22					0	0	0	0
RELN	5649	broad.mit.edu	37	7	103194255	103194255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103194255C>A	uc003vca.2	-	39	5981	c.5821G>T	c.(5821-5823)GTT>TTT	p.V1941F	RELN_uc010liz.2_Missense_Mutation_p.V1941F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1941					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTCATCAACAATCCAGATT	0.348		NA											11	54					6.4e-05	7.38e-05	1	0
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103202352C>T	uc003vca.2	-	35	5419	c.5259G>A	c.(5257-5259)GGG>GGA	p.G1753G	RELN_uc010liz.2_Silent_p.G1753G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1753					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478		NA											11	19					0	0	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423469	107423469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107423469G>T	uc003ver.2	-	10	1400	c.1189C>A	c.(1189-1191)CTC>ATC	p.L397I	SLC26A3_uc003ves.2_Missense_Mutation_p.L362I	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	397					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						GATCTGGAGAGGGCAGTACTC	0.458		NA											32	87					9.18e-22	1.35e-21	1	0
LAMB4	22798	broad.mit.edu	37	7	107696308	107696308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107696308C>T	uc010ljo.1	-	25	3608	c.3524G>A	c.(3523-3525)TGT>TAT	p.C1175Y	LAMB4_uc003vey.2_Missense_Mutation_p.C1175Y|LAMB4_uc010ljp.1_Missense_Mutation_p.C144Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1175	Domain II.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCACAAGTGACATTGAAGACA	0.542		NA											20	75					0	0	0	0
ASZ1	136991	broad.mit.edu	37	7	117003704	117003704	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:117003704T>C	uc003vjb.2	-	13	1437	c.1374A>G	c.(1372-1374)ATA>ATG	p.I458M	ASZ1_uc011kno.1_Missense_Mutation_p.I449M|ASZ1_uc011knp.1_Missense_Mutation_p.I250M	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	458					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGAATCCGCATATGGTAATAG	0.318		NA											14	40					0	0	0	0
ASB15	142685	broad.mit.edu	37	7	123270163	123270163	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:123270163C>A	uc003vku.1	+	11	1876	c.1584C>A	c.(1582-1584)CGC>CGA	p.R528R	ASB15_uc003vkw.1_Silent_p.R528R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	528	SOCS box.				intracellular signal transduction					skin(2)|lung(1)	3						CAGAAATCCGCCAAATACTAG	0.353		NA											20	49					5.35e-07	6.59e-07	1	0
ZNF282	8427	broad.mit.edu	37	7	148903833	148903833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:148903833G>T	uc003wfm.2	+	3	736	c.631G>T	c.(631-633)GAG>TAG	p.E211*	ZNF282_uc011kun.1_Nonsense_Mutation_p.E211*|ZNF282_uc003wfn.2_Nonsense_Mutation_p.E151*|ZNF282_uc003wfo.2_Nonsense_Mutation_p.E151*	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	211	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCCGAAGACGAGTGGAAGAA	0.498		NA											74	174					9.08e-34	1.37e-33	1	0
C8orf42	157695	broad.mit.edu	37	8	444571	444571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:444571C>T	uc003wpd.2	-	2	709	c.135G>A	c.(133-135)TGG>TGA	p.W45*	C8orf42_uc011kwg.1_Nonsense_Mutation_p.W45*	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	45											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		TCACTTCTTTCCAACCTCGGA	0.383		NA											10	30					0	0	0	0
USP17L2	377630	broad.mit.edu	37	8	11995836	11995836	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:11995836G>A	uc003wvc.1	-	1	434	c.434C>T	c.(433-435)CCC>CTC	p.P145L	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	145					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						TGCCTGTGAGGGCTGGATGAC	0.527		NA											39	70					0	0	0	0
LONRF1	91694	broad.mit.edu	37	8	12598387	12598387	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:12598387T>C	uc003wwd.1	-	3	1022	c.959A>G	c.(958-960)CAA>CGA	p.Q320R	LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	320					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		GATTACCTTTTGTACTTGCAG	0.373		NA											39	64					0	0	0	0
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:27310644G>A	uc003xfn.1	+	33	3370	c.2562G>A	c.(2560-2562)GGG>GGA	p.G854G	PTK2B_uc003xfo.1_Silent_p.G854G|PTK2B_uc003xfp.1_Silent_p.G854G|PTK2B_uc003xfq.1_Silent_p.G812G	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542		NA											33	60					0	0	0	0
FGFR1	2260	broad.mit.edu	37	8	38287450	38287450	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:38287450G>A	uc003xlp.2	-	3	1050	c.108C>T	c.(106-108)GCC>GCT	p.A36A	FGFR1_uc011lbo.1_Silent_p.A36A|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Silent_p.A28A|FGFR1_uc011lbr.1_5'Flank|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Silent_p.A69A|FGFR1_uc011lbv.1_Silent_p.A36A|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Intron|FGFR1_uc003xlu.2_Intron|FGFR1_uc003xlw.1_RNA	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	36	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCCACAGGGGCTCCCCAGG	0.438		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						82	19					0	0	0	0
MYST3	7994	broad.mit.edu	37	8	41836253	41836253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:41836253C>G	uc010lxb.2	-	7	1494	c.950G>C	c.(949-951)CGA>CCA	p.R317P	MYST3_uc010lxc.2_Missense_Mutation_p.R317P|MYST3_uc003xon.3_Missense_Mutation_p.R317P|MYST3_uc010lxd.2_Missense_Mutation_p.R317P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	317	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TAGAAGTTTTCGTCCTTTTTT	0.353		NA											33	110					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55533742	55533742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:55533742G>T	uc003xsd.1	+	2	364	c.216G>T	c.(214-216)AGG>AGT	p.R72S	RP1_uc011ldy.1_Missense_Mutation_p.R72S	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	72	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTGTCCAGGAAGGTGCCCC	0.592		NA											25	95					9.86e-18	1.42e-17	1	0
PENK	5179	broad.mit.edu	37	8	57353977	57353977	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:57353977G>C	uc003xsz.2	-	2	739	c.658C>G	c.(658-660)CCA>GCA	p.P220A	PENK_uc003xta.3_Missense_Mutation_p.P220A	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	220					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACCACTCTGGGCGACCTACT	0.537		NA											47	112					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61774807	61774807	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:61774807A>G	uc003xue.2	+	36	8360	c.7883A>G	c.(7882-7884)CAT>CGT	p.H2628R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGAAACGACATAGATGTCGA	0.353		NA											7	11					0	0	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594460	70594460	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:70594460A>C	uc003xyl.2	-	7	2448	c.1741T>G	c.(1741-1743)TGT>GGT	p.C581G	SLCO5A1_uc010lzb.2_Missense_Mutation_p.C526G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C581G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	581	Extracellular (Potential).|Kazal-like.					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGCCAGACAAGGGTTAAAG	0.423		NA											17	68					0	0	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932314	75932314	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:75932314G>A	uc003yan.2	+	12	1619	c.1244G>A	c.(1243-1245)AGA>AAA	p.R415K	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R227K|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R227K	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	415	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408		NA											14	32					0	0	0	0
CA2	760	broad.mit.edu	37	8	86386585	86386585	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:86386585G>T	uc003ydk.2	+	4	564	c.384G>T	c.(382-384)GGG>GGT	p.G128G		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCAAATATGGGGATTTTGGGA	0.393		NA											35	111					4.4e-34	6.63e-34	1	0
TMEM55A	55529	broad.mit.edu	37	8	92007999	92007999	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:92007999C>A	uc003yes.2	-	7	906	c.680G>T	c.(679-681)TGG>TTG	p.W227L		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	227	Helical; (Potential).					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			AGCAATTGCCCAAGAAACATA	0.363		NA											15	43					1.68e-08	2.14e-08	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110510777	110510777	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110510777T>C	uc003yne.2	+	66	10790	c.10686T>C	c.(10684-10686)GCT>GCC	p.A3562A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3562	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACTGCTGCTCATCGGAGTC	0.343		NA								HNSCC(38;0.096)			18	47					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530661	110530661	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110530661G>T	uc003yne.2	+	73	12059	c.11955G>T	c.(11953-11955)AGG>AGT	p.R3985S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3985	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTGAGGAGGAAGAGATCCA	0.388		NA								HNSCC(38;0.096)			17	52					1.15e-07	1.43e-07	1	0
CSMD3	114788	broad.mit.edu	37	8	113249531	113249531	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113249531G>C	uc003ynu.2	-	67	10674	c.10515C>G	c.(10513-10515)TAC>TAG	p.Y3505*	CSMD3_uc003yns.2_Nonsense_Mutation_p.Y2707*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y3465*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y3336*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3505	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTTGAAATTGTAAGAGCCTT	0.348		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	50					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113277722	113277722	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113277722G>T	uc003ynu.2	-	60	9765	c.9606C>A	c.(9604-9606)GGC>GGA	p.G3202G	CSMD3_uc003yns.2_Silent_p.G2404G|CSMD3_uc003ynt.2_Silent_p.G3162G|CSMD3_uc011lhx.1_Silent_p.G3033G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3202	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCATCGTGTAGCCTGGCTGGC	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	63					2.08e-15	2.94e-15	1	0
CSMD3	114788	broad.mit.edu	37	8	113317077	113317077	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113317077G>A	uc003ynu.2	-	52	8298	c.8139C>T	c.(8137-8139)TCC>TCT	p.S2713S	CSMD3_uc003yns.2_Silent_p.S1915S|CSMD3_uc003ynt.2_Silent_p.S2673S|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2713	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATTCATAATGGGAGCCATTCA	0.403		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	25					0	0	0	0
OC90	729330	broad.mit.edu	37	8	133036754	133036754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133036754C>A	uc003ytg.2	-	13	1408	c.1408G>T	c.(1408-1410)GGG>TGG	p.G470W	OC90_uc011lix.1_Missense_Mutation_p.G470W	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	486					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCCCGATCCCCAAGGGACCC	0.582		NA											13	25					3.27e-08	4.14e-08	1	0
PHF20L1	51105	broad.mit.edu	37	8	133856460	133856460	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133856460A>G	uc003ytt.2	+	20	3133	c.2808A>G	c.(2806-2808)CCA>CCG	p.P936P	PHF20L1_uc011lja.1_Silent_p.P910P	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	936							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCGAAGACCCAGGAGACTCAC	0.418		NA											25	47					0	0	0	0
ZFAT	57623	broad.mit.edu	37	8	135614050	135614050	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:135614050C>A	uc003yup.2	-	6	2087	c.1912G>T	c.(1912-1914)GCC>TCC	p.A638S	ZFAT_uc003yun.2_Missense_Mutation_p.A626S|ZFAT_uc003yuo.2_Missense_Mutation_p.A626S|ZFAT_uc010meh.2_Missense_Mutation_p.A626S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A626S|ZFAT_uc010mej.2_Missense_Mutation_p.A576S|ZFAT_uc003yur.2_Missense_Mutation_p.A626S	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCACTCTGGGCCTTGGACAGC	0.597		NA											21	76					3.6e-14	5e-14	1	0
KANK1	23189	broad.mit.edu	37	9	738306	738306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:738306C>T	uc003zgl.1	+	12	4004	c.3355C>T	c.(3355-3357)CAG>TAG	p.Q1119*	KANK1_uc003zgn.1_Nonsense_Mutation_p.Q1119*|KANK1_uc003zgs.1_Nonsense_Mutation_p.Q961*|KANK1_uc010mgx.1_Nonsense_Mutation_p.Q97*|KANK1_uc010mgy.1_Nonsense_Mutation_p.Q31*|KANK1_uc003zgt.1_Nonsense_Mutation_p.Q31*	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1119					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAACACCCTCCAGCACGAGTG	0.502		NA											8	12					0	0	0	0
PTPRD	5789	broad.mit.edu	37	9	8340364	8340364	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:8340364G>T	uc003zkk.2	-	41	5943	c.5232C>A	c.(5230-5232)ACC>ACA	p.T1744T	PTPRD_uc003zkp.2_Silent_p.T1338T|PTPRD_uc003zkq.2_Silent_p.T1337T|PTPRD_uc003zkr.2_Silent_p.T1328T|PTPRD_uc003zks.2_Silent_p.T1337T|PTPRD_uc003zkl.2_Silent_p.T1735T|PTPRD_uc003zkm.2_Silent_p.T1731T|PTPRD_uc003zkn.2_Silent_p.T1333T|PTPRD_uc003zko.2_Silent_p.T1334T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1744	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGCAGCTTGGTGAGCATCA	0.483		NA								TSP Lung(15;0.13)			18	26					9.17e-09	1.18e-08	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	rs61757680		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:38395768G>A	uc004aay.2	+	2	135	c.23G>A	c.(22-24)CGG>CAG	p.R8Q		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	8					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTGGCACCCCGGCTGCTTAGC	0.627		NA											30	44					0	0	0	0
SMC5	23137	broad.mit.edu	37	9	72897368	72897368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:72897368G>A	uc004ahr.2	+	7	967	c.850G>A	c.(850-852)GAA>AAA	p.E284K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	284	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						GGAATATGAAGAAGTAAAACT	0.353		NA											16	29					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84607177	84607177	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:84607177C>T	uc004amn.2	+	4	1839	c.1792C>T	c.(1792-1794)CTG>TTG	p.L598L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	598						integral to membrane					0						TCCTCTATTCCTGATTAGGAT	0.502		NA											28	50					0	0	0	0
FGD3	89846	broad.mit.edu	37	9	95738930	95738930	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:95738930G>T	uc004asw.2	+	3	1020	c.392G>T	c.(391-393)GGT>GTT	p.G131V	FGD3_uc004asx.2_Missense_Mutation_p.G131V|FGD3_uc004asz.2_Missense_Mutation_p.G131V	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	131					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						AGCGACGTGGGTGAGGAACCT	0.682		NA											23	30					9.04e-07	1.1e-06	1	0
KIAA1529	57653	broad.mit.edu	37	9	100092789	100092789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:100092789C>T	uc011lut.1	+	30	3336	c.2563C>T	c.(2563-2565)CAG>TAG	p.Q855*	KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q855*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q716*|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Nonsense_Mutation_p.Q40*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.Q673*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.Q716*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.Q713*	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGTGCTGGGGCAGCAGAAAAA	0.453		NA											10	25					0	0	0	0
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:109689499A>C	uc004bcz.2	+	3	3595	c.3306A>C	c.(3304-3306)CCA>CCC	p.P1102P	ZNF462_uc010mto.2_Silent_p.P950P|ZNF462_uc004bda.2_Silent_p.P950P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CACCCCCCCCACAACCCCCGC	0.527		NA											3	23					0	0	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170649	123170649	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:123170649C>G	uc004bkf.2	-	31	4883	c.4702G>C	c.(4702-4704)GAT>CAT	p.D1568H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.D577H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.D853H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.D1568H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.D833H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.D1338H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.D1335H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1568					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						TGCTCTTCATCCAGCTTCTCA	0.557		NA											24	51					0	0	0	0
NR5A1	2516	broad.mit.edu	37	9	127253385	127253385	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:127253385G>C	uc004boo.1	-	6	1300	c.1113C>G	c.(1111-1113)CTC>CTG	p.L371L		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	371	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TGATGAACTTGAGGCAGACAA	0.652		NA											7	12					0	0	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099315	128099315	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:128099315C>T	uc010mwx.2	+	16	2773	c.2447C>T	c.(2446-2448)TCT>TTT	p.S816F	GAPVD1_uc011lzs.1_Missense_Mutation_p.S816F|GAPVD1_uc004bpp.2_Missense_Mutation_p.S843F|GAPVD1_uc004bpq.2_Missense_Mutation_p.S816F|GAPVD1_uc004bpr.2_Missense_Mutation_p.S795F|GAPVD1_uc004bps.2_Missense_Mutation_p.S816F|GAPVD1_uc010mwy.1_Intron	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	816					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CAGCTGACCTCTCCTCCTTCT	0.468		NA											22	31					0	0	0	0
PLCXD1	55344	broad.mit.edu	37	X	209702	209702	+	Nonsense_Mutation	SNP	G	G	T	rs146046082		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:209702G>T	uc004cpc.2	+	6	862	c.550G>T	c.(550-552)GAG>TAG	p.E184*	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	184	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTTTGCAGGAGGTGCCGAC	0.667		NA											8	35					5.18e-06	6.18e-06	1	0
PIGA	5277	broad.mit.edu	37	X	15344163	15344163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:15344163C>T	uc004cwr.2	-	3	821	c.721G>A	c.(721-723)GAT>AAT	p.D241N	PIGA_uc010neu.2_5'Flank|PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_5'UTR|PIGA_uc011miq.1_Missense_Mutation_p.D7N|PIGA_uc010new.1_Missense_Mutation_p.R116Q	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	241	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					CTAAGCAAATCGATCCCTGAA	0.303		NA											24	32					0	0	0	0
YY2	404281	broad.mit.edu	37	X	21875522	21875522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:21875522G>T	uc011mjp.1	+	1	920	c.920G>T	c.(919-921)GGC>GTC	p.G307V	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.G525V|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	307	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTCCACACCGGCGAGAAGCCC	0.547		NA											90	84					2.62e-60	4.01e-60	1	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:34149264C>T	uc004ddg.2	-	1	1165	c.1132G>A	c.(1132-1134)GAG>AAG	p.E378K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	378										ovary(4)|central_nervous_system(1)	5						TTGGAAGGCTCCGCGTGGAGA	0.637		NA											32	26					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41077827	41077827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:41077827G>A	uc004dfb.2	+	37	7045	c.6412G>A	c.(6412-6414)GCC>ACC	p.A2138T	USP9X_uc004dfc.2_Missense_Mutation_p.A2138T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2138					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TTCACCTTTTGCCTCTCCTGG	0.428		NA											39	26					0	0	0	0
ZMYM3	9203	broad.mit.edu	37	X	70463741	70463741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70463741G>A	uc004dzh.1	-	21	3457	c.3370C>T	c.(3370-3372)CGG>TGG	p.R1124W	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R1124W|ZMYM3_uc004dzj.1_Missense_Mutation_p.R1112W	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1124					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CCATTGGGCCGAGTGATTTCT	0.493		NA											28	20					0	0	0	0
NONO	4841	broad.mit.edu	37	X	70514351	70514351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70514351G>A	uc004dzo.2	+	6	1333	c.623G>A	c.(622-624)TGC>TAC	p.C208Y	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.C208Y|NONO_uc004dzp.2_Missense_Mutation_p.C208Y|NONO_uc011mpv.1_Missense_Mutation_p.C119Y|NONO_uc004dzq.2_Missense_Mutation_p.C77Y	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	208	RRM 2.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					CTGGACAGATGCAGTGAAGGC	0.502		NA	T	TFE3	papillary renal cancer								6	6					0	0	0	0
DACH2	117154	broad.mit.edu	37	X	85950137	85950137	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:85950137G>T	uc004eew.2	+	5	1056	c.886G>T	c.(886-888)GCT>TCT	p.A296S	DACH2_uc004eex.2_Missense_Mutation_p.A283S|DACH2_uc010nmq.2_Missense_Mutation_p.A162S|DACH2_uc011mra.1_Missense_Mutation_p.A129S|DACH2_uc010nmr.2_Missense_Mutation_p.A77S	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.A296A(1)		ovary(4)|pancreas(1)	5						CATTGGGGGTGCTCCAACCCT	0.498		NA											8	4					5.18e-06	6.18e-06	1	0
KLHL4	56062	broad.mit.edu	37	X	86773057	86773057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:86773057G>T	uc004efb.2	+	1	343	c.161G>T	c.(160-162)AGC>ATC	p.S54I	KLHL4_uc004efa.2_Missense_Mutation_p.S54I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	54						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						AGGTTGAAGAGCCACTCTCGG	0.542		NA											23	13					5.45e-15	7.64e-15	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911283	101911283	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:101911283G>C	uc004ejj.3	+	5	3243	c.2442G>C	c.(2440-2442)TGG>TGC	p.W814C	GPRASP1_uc004eji.3_Missense_Mutation_p.W814C|GPRASP1_uc010nod.2_Missense_Mutation_p.W814C	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	814	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						TTGGGTCCTGGTTTGGGGCCA	0.502		NA											56	51					0	0	0	0
DCX	1641	broad.mit.edu	37	X	110644424	110644424	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:110644424T>C	uc004epd.2	-	3	914	c.742A>G	c.(742-744)AGT>GGT	p.S248G	DCX_uc011msv.1_Missense_Mutation_p.S248G|DCX_uc004epe.2_Missense_Mutation_p.S167G|DCX_uc004epf.2_Missense_Mutation_p.S167G|DCX_uc004epg.2_Missense_Mutation_p.S167G	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	248					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						GCCTGTGCACTGTTGCTGCTA	0.522		NA											37	26					0	0	0	0
THOC2	57187	broad.mit.edu	37	X	122802034	122802034	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:122802034T>A	uc004etu.2	-	10	1025	c.993A>T	c.(991-993)GAA>GAT	p.E331D	THOC2_uc011muh.1_Missense_Mutation_p.E252D|THOC2_uc011mui.1_Missense_Mutation_p.E216D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	331	Potential.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						cctcttctttttccttttctt	0.209		NA											41	29					0	0	0	0
BCORL1	63035	broad.mit.edu	37	X	129149413	129149413	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:129149413C>T	uc004evb.1	+	4	2779	c.2665C>T	c.(2665-2667)CCA>TCA	p.P889S	BCORL1_uc010nrd.1_Missense_Mutation_p.P791S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	889					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGAGGGGCAACCACGGCCTGG	0.572		NA											19	25					0	0	0	0
GPR101	83550	broad.mit.edu	37	X	136113046	136113046	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:136113046C>T	uc011mwh.1	-	1	788	c.788G>A	c.(787-789)CGC>CAC	p.R263H		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	263	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					ATGCTGGCGGCGAAACTCACT	0.557		NA											58	55					0	0	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717001	142717001	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:142717001C>A	uc004fbx.2	-	2	2300	c.1924G>T	c.(1924-1926)GTC>TTC	p.V642F	SLITRK4_uc004fby.2_Missense_Mutation_p.V642F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	642	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGCAGGACAAAAACAAGA	0.478		NA											53	28					9.58e-29	1.43e-28	1	0
MAGEA10	4109	broad.mit.edu	37	X	151304000	151304000	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:151304000G>A	uc004ffk.2	-	5	501	c.93C>T	c.(91-93)CCC>CCT	p.P31P	MAGEA10_uc004ffl.2_Silent_p.P31P	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	31											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCAGGGGAGCCTGTG	0.418		NA											34	20					0	0	0	0
IL9R	3581	broad.mit.edu	37	X	155235022	155235022	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:155235022A>T	uc004fnv.1	+	6	838	c.659A>T	c.(658-660)CAT>CTT	p.H220L	IL9R_uc010nvn.2_Missense_Mutation_p.H199L|IL9R_uc004fnu.1_Missense_Mutation_p.H255L	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	220	Extracellular (Potential).|Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTTATCCATGAGGCCAGG	0.582		NA											52	55					0	0	0	0
PTPRU	10076	broad.mit.edu	37	1	29611279	29611279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:29611279delC	uc001bru.2	+	14	2326	c.2216delC	c.(2215-2217)TCCfs	p.S739fs	PTPRU_uc001brv.2_Frame_Shift_Del_p.S739fs|PTPRU_uc001brw.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtq.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtr.2_Frame_Shift_Del_p.S739fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	739	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGAGGTGTCCCAGAGATCG	0.577		NA											26	86	---	---	---	---	NA	NA	NA	NA
SELP	6403	broad.mit.edu	37	1	169582838	169582838	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169582838delG	uc001ggi.3	-	4	640	c.575delC	c.(574-576)CCAfs	p.P192fs	SELP_uc001ggh.2_Frame_Shift_Del_p.P27fs|SELP_uc009wvr.2_Frame_Shift_Del_p.P192fs	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	192	Extracellular (Potential).|EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCACATTCTGGCCCATAGAA	0.453		NA											20	65	---	---	---	---	NA	NA	NA	NA
OR8J1	219477	broad.mit.edu	37	11	56128025	56128025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:56128025delG	uc010rjh.1	+	1	303	c.303delG	c.(301-303)CTGfs	p.L101fs		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CCACCCAACTGGGAGGGTTCT	0.413		NA											38	89	---	---	---	---	NA	NA	NA	NA
CD163	9332	broad.mit.edu	37	12	7639140	7639141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:7639140_7639141insC	uc001qsz.3	-	10	2540_2541	c.2412_2413insG	c.(2410-2415)GGGCAGfs	p.G804fs	CD163_uc001qta.3_Frame_Shift_Ins_p.G804fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.G837fs	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	804_805	SRCR 7.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CAATTTTGCTGCCCCCAGCCGT	0.48		NA											57	214	---	---	---	---	NA	NA	NA	NA
PCDH8	5100	broad.mit.edu	37	13	53421350	53421351	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:53421350_53421351delCG	uc001vhi.2	-	1	1424_1425	c.1221_1222delCG	c.(1219-1224)CGCGAGfs	p.R407fs	PCDH8_uc001vhj.2_Frame_Shift_Del_p.R407fs	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	407_408	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACCAGGCTCTCGCGCGCCGCCC	0.757		NA											4	9	---	---	---	---	NA	NA	NA	NA
MTA1	9112	broad.mit.edu	37	14	105920619	105920619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:105920619delG	uc001yqx.2	+	7	709	c.522delG	c.(520-522)CAGfs	p.Q174fs	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Frame_Shift_Del_p.Q88fs|MTA1_uc001yra.1_Frame_Shift_Del_p.Q88fs	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	174	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCGGTACCAGGCAGACATCA	0.542		NA											14	45	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7579433	7579433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7579433delG	uc002gim.2	-	4	448	c.254delC	c.(253-255)CCTfs	p.P85fs	TP53_uc002gig.1_Frame_Shift_Del_p.P85fs|TP53_uc002gih.2_Frame_Shift_Del_p.P85fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P85fs|TP53_uc010cni.1_Frame_Shift_Del_p.P85fs|TP53_uc002gij.2_Frame_Shift_Del_p.P85fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P46fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P100fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	85	Interaction with WWOX.		P -> S (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85S(2)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTGGTGCAGGGGCCGCCGG	0.622		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	57	---	---	---	---	NA	NA	NA	NA
PEG3	5178	broad.mit.edu	37	19	57327872	57327872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57327872delC	uc002qnu.2	-	7	2289	c.1938delG	c.(1936-1938)CAGfs	p.Q646fs	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.Q617fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.Q646fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.Q522fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.Q520fs|PEG3_uc010etr.2_Frame_Shift_Del_p.Q646fs	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	646	C2H2-type 4.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGGATTTTCTGATGTTCTT	0.398		NA											31	100	---	---	---	---	NA	NA	NA	NA
CNGA3	1261	broad.mit.edu	37	2	99013410	99013410	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:99013410delG	uc002syt.2	+	8	2194	c.1777delG	c.(1777-1779)GAAfs	p.E593fs	CNGA3_uc002syu.2_Frame_Shift_Del_p.E575fs|CNGA3_uc010fij.2_Frame_Shift_Del_p.E597fs	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	593	cGMP.		E -> K (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CGAGTACCCCGAAGCCAAGAA	0.612		NA											28	45	---	---	---	---	NA	NA	NA	NA
IL1F9	56300	broad.mit.edu	37	2	113737705	113737706	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:113737705_113737706insA	uc002tio.1	+	4	349_350	c.280_281insA	c.(280-282)CAGfs	p.Q94fs	IL1F9_uc010fkr.1_Frame_Shift_Ins_p.Q59fs	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	interleukin 1 family, member 9	94					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						GGTTGGAGAACAGCCCACATTG	0.371		NA											15	38	---	---	---	---	NA	NA	NA	NA
TTN	7273	broad.mit.edu	37	2	179404975	179404975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179404975delG	uc010zfg.1	-	300	90438	c.90214delC	c.(90214-90216)CAAfs	p.Q30072fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.Q23767fs|TTN_uc010zfi.1_Frame_Shift_Del_p.Q23700fs|TTN_uc010zfj.1_Frame_Shift_Del_p.Q23575fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30999							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTTTTTGCATTTCAATC	0.443		NA											74	214	---	---	---	---	NA	NA	NA	NA
CREB1	1385	broad.mit.edu	37	2	208420421	208420421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:208420421delA	uc002vcc.2	+	2	313	c.62delA	c.(61-63)GAAfs	p.E21fs	CREB1_uc010ziz.1_Frame_Shift_Del_p.E19fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E21fs	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	21					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGAAGCTGAAAACCAACAA	0.433		NA	T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								10	17	---	---	---	---	NA	NA	NA	NA
COL6A3	1293	broad.mit.edu	37	2	238303598	238303598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:238303598delC	uc002vwl.2	-	3	626	c.341delG	c.(340-342)GGAfs	p.G114fs	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Frame_Shift_Del_p.G114fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	114	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G114*(1)		ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGATTGGTTCCCCCAATATA	0.458		NA											22	90	---	---	---	---	NA	NA	NA	NA
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:147560457_147560458insGGC	uc003ikv.2	+	1	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	68_69					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.386		NA											7	15	---	---	---	---	NA	NA	NA	NA
LPA	4018	broad.mit.edu	37	6	161020587	161020587	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161020587delA	uc003qtl.2	-	21	3352	c.3232delT	c.(3232-3234)TGGfs	p.W1078fs		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3586	Kringle 32.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGATGACCAAGCTTGGCAA	0.502		NA											9	687	---	---	---	---	NA	NA	NA	NA
HNRNPA2B1	3181	broad.mit.edu	37	7	26232884	26232885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:26232884_26232885insC	uc003sxr.3	-	10	1202_1203	c.986_987insG	c.(985-987)GGAfs	p.G329fs	HNRNPA2B1_uc003sxs.3_Frame_Shift_Ins_p.G317fs	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	329	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CACCATATGGTCCCCCCATGTT	0.361		NA	T	ETV1	prostate								25	107	---	---	---	---	NA	NA	NA	NA
MAPK15	225689	broad.mit.edu	37	8	144804268	144804272	+	Frame_Shift_Del	DEL	GGCCC	GGCCC	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:144804268_144804272delGGCCC	uc003yzj.2	+	14	1523_1527	c.1482_1486delGGCCC	c.(1480-1488)GAGGCCCGGfs	p.E494fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	494_496					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCTCCGGAGGCCCGGCCCGGCCG	0.659		NA											25	180	---	---	---	---	NA	NA	NA	NA
MXRA5	25878	broad.mit.edu	37	X	3235326	3235327	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:3235326_3235327delGC	uc004crg.3	-	6	6552_6553	c.6395_6396delGC	c.(6394-6396)CGCfs	p.R2132fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2132	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCGTCCTGCGCGCGGAGCC	0.663		NA											6	5	---	---	---	---	NA	NA	NA	NA
IL1RAPL2	26280	broad.mit.edu	37	X	104440323	104440323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:104440323delG	uc004elz.1	+	3	1005	c.249delG	c.(247-249)TTGfs	p.L83fs		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	83	Ig-like C2-type 1.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAGGTGATTTGGAAGAGCCCA	0.448		NA											28	23	---	---	---	---	NA	NA	NA	NA
