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
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:18962744G>A	uc001bay.2	+	4	1063	c.465G>A	c.(463-465)TCG>TCA	p.S155S	PAX7_uc001baz.2_Silent_p.S153S|PAX7_uc010oct.1_Silent_p.S155S	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	155	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.363		NA	T	FOXO1A	alveolar rhabdomyosarcoma								47	100					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43907942C>G	uc001cjk.1	+	42	5642	c.5180C>G	c.(5179-5181)GCC>GGC	p.A1727G		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2626						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGTAGCTGCCAAAGCCATG	0.602		NA											12	35					0	0	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:110294291G>A	uc001dyr.1	-	16	1693	c.1548C>T	c.(1546-1548)GGC>GGT	p.G516G	EPS8L3_uc001dys.1_Silent_p.G486G|EPS8L3_uc001dyq.1_Silent_p.G517G|EPS8L3_uc009wfm.1_Silent_p.G453G|EPS8L3_uc009wfn.1_Silent_p.G461G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	516						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622		NA											33	44					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152277201G>A	uc001ezu.1	-	3	10197	c.10161C>T	c.(10159-10161)CTC>CTT	p.L3387L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612		NA							Ichthyosis				201	385					0	0	0	0
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153905961C>T	uc001fdd.1	-	20	3729	c.3328G>A	c.(3328-3330)GAG>AAG	p.E1110K	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGCTACCTCGGAGGCAGTG	0.647		NA											10	19					0	0	0	0
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153906274C>G	uc001fdd.1	-	20	3416	c.3015G>C	c.(3013-3015)CTG>CTC	p.L1005L	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTCAGGCTCAGGTCTGAGA	0.642		NA											13	14					0	0	0	0
C1orf125	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:179414261C>G	uc001gmo.2	+	16	1847	c.1720C>G	c.(1720-1722)CGA>GGA	p.R574G	C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Missense_Mutation_p.R362G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R574G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	574	Potential.										0						GCCATCAGAGCGACAGTACAT	0.338		NA											35	67					0	0	0	0
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:180155269A>G	uc001gnz.2	+	8	1044	c.969A>G	c.(967-969)GAA>GAG	p.E323E	QSOX1_uc001gny.2_Silent_p.E323E|QSOX1_uc001goa.2_Silent_p.E323E	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	323					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CGGTCCTGGAAGGGCAGCGCC	0.577		NA											20	53					0	0	0	0
PRG4	10216	broad.mit.edu	37	1	186276526	186276526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:186276526G>A	uc001gru.3	+	7	1726	c.1675G>A	c.(1675-1677)GAG>AAG	p.E559K	PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	559	28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CACCACCAAGGAGCCTGCACC	0.637		NA											4	65					0	0	0	0
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:201965306G>C	uc001gxd.2	+	4	798	c.769G>C	c.(769-771)GAT>CAT	p.D257H	RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.D126H	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	257					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493		NA											57	108					0	0	0	0
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:215777507G>A	uc001hks.2	+	13	1466	c.1172G>A	c.(1171-1173)GGT>GAT	p.G391D	KCTD3_uc001hkt.2_Missense_Mutation_p.G391D|KCTD3_uc010pub.1_Missense_Mutation_p.G289D|KCTD3_uc009xdn.2_Missense_Mutation_p.G143D	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	391						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453		NA											33	86					0	0	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:222717416G>A	uc001hnh.1	-	2	495	c.437C>T	c.(436-438)TCA>TTA	p.S146L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	146					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587		NA											70	142					0	0	0	0
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:468941C>A	uc001ifp.2	-	5	517	c.427G>T	c.(427-429)GTG>TTG	p.V143L	DIP2C_uc009xhk.1_Missense_Mutation_p.Q144H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	143						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562		NA											58	128					7.11e-31	8.22e-31	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:37508487C>T	uc001iza.1	+	34	3778	c.3679C>T	c.(3679-3681)CAT>TAT	p.H1227Y		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GGTTTCAGAACATGCACAAAG	0.373		NA											19	51					0	0	0	0
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:97174295G>A	uc001kkp.2	-	7	811	c.766C>T	c.(766-768)CGC>TGC	p.R256C	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R256C|SORBS1_uc001kkq.2_Missense_Mutation_p.R187C|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.R224C|SORBS1_uc001kkw.2_Missense_Mutation_p.R256C|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.R454C|SORBS1_uc001kkx.1_Missense_Mutation_p.R224C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	256					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637		NA											24	58					0	0	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:5529987C>T	uc001may.1	-	2	888	c.802G>A	c.(802-804)GCA>ACA	p.A268T	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517		NA											70	136					0	0	0	0
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:13438772C>T	uc001mkz.2	-	5	877	c.620G>A	c.(619-621)CGA>CAA	p.R207Q	BTBD10_uc010rcl.1_Missense_Mutation_p.R215Q|BTBD10_uc001mla.2_Missense_Mutation_p.R191Q|BTBD10_uc009ygn.2_Intron|BTBD10_uc010rcm.1_Missense_Mutation_p.R159Q|BTBD10_uc010rcn.1_Missense_Mutation_p.R176Q|BTBD10_uc009ygo.2_Missense_Mutation_p.R159Q	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	207	BTB.					nucleus					0				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378		NA											81	155					0	0	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:14901976C>T	uc001mlr.2	-	3	706	c.706G>A	c.(706-708)GGC>AGC	p.G236S	CYP2R1_uc001mlo.2_Intron|CYP2R1_uc001mlp.2_Missense_Mutation_p.G119S|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.G181S	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	236					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398		NA											31	83					0	0	0	0
KIAA0652	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:46681003A>G	uc009yld.2	+	11	1441	c.757A>G	c.(757-759)ACC>GCC	p.T253A	KIAA0652_uc001nda.2_Missense_Mutation_p.T253A|KIAA0652_uc001ndb.2_Missense_Mutation_p.T253A|KIAA0652_uc001ncz.2_Missense_Mutation_p.T253A|KIAA0652_uc001ndc.2_Missense_Mutation_p.T253A|KIAA0652_uc010rgv.1_Missense_Mutation_p.T174A	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	253					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		AGAAGTGTGTACCACCTCTTT	0.433		NA											33	70					0	0	0	0
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55579760T>G	uc001nhw.1	+	1	818	c.818T>G	c.(817-819)GTG>GGG	p.V273G		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473		NA											33	70					0	0	0	0
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:65304218G>A	uc001oea.1	+	13	1890	c.1813G>A	c.(1813-1815)GAA>AAA	p.E605K	SCYL1_uc009yqk.2_Missense_Mutation_p.E605K|SCYL1_uc001oeb.1_Missense_Mutation_p.E605K|SCYL1_uc001oec.1_Missense_Mutation_p.E605K|SCYL1_uc001oed.1_Missense_Mutation_p.E462K|SCYL1_uc001oee.1_Missense_Mutation_p.E249K	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	605	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						ACCCACGCCTGAAGGTGAGTG	0.607		NA											49	125					0	0	0	0
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:95591793T>C	uc001pfu.2	-	6	725	c.472A>G	c.(472-474)ATT>GTT	p.I158V	MTMR2_uc001pfv.2_Missense_Mutation_p.I86V|MTMR2_uc001pfs.2_Missense_Mutation_p.I86V|MTMR2_uc001pft.2_Missense_Mutation_p.I86V|MTMR2_uc010ruj.1_Missense_Mutation_p.I141V	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	158						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313		NA											61	106					0	0	0	0
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:118888677G>A	uc001pun.2	-	2	153	c.90C>T	c.(88-90)GCC>GCT	p.A30A	TRAPPC4_uc010ryn.1_5'Flank|TRAPPC4_uc010ryo.1_5'Flank|TRAPPC4_uc010ryp.1_5'Flank|TRAPPC4_uc001pup.2_5'Flank|TRAPPC4_uc010ryq.1_5'Flank	NM_001028	NP_001019	P62851	RS25_HUMAN	ribosomal protein S25	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468		NA											63	128					0	0	0	0
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:14946725C>T	uc001rci.2	-	8	1014	c.853G>A	c.(853-855)GGG>AGG	p.G285R		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						AATTCATCCCCGTCACTTTCT	0.423		NA											128	262					0	0	0	0
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:32480416C>T	uc001rku.2	+	5	1108	c.1027C>T	c.(1027-1029)CTT>TTT	p.L343F	BICD1_uc001rkv.2_Missense_Mutation_p.L343F|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	343	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527		NA											37	93					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49428450C>G	uc001rta.3	-	36	10356	c.10356_splice	c.e36-1	p.R3452_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CACTTGCTGTCTGGAGTCCAC	0.547		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			7	27					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56222003T>A	uc001shx.1	-	2	644	c.440A>T	c.(439-441)AAT>ATT	p.N147I	DNAJC14_uc001shu.1_Missense_Mutation_p.N147I|DNAJC14_uc009zob.1_Missense_Mutation_p.N147I|DNAJC14_uc001shy.1_Missense_Mutation_p.N147I	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	147					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AGAAGAACCATTTCCTCCCTC	0.483		NA											91	161					0	0	0	0
PAN2	9924	broad.mit.edu	37	12	56712923	56712923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56712923T>C	uc001skx.2	-	24	3698	c.3325A>G	c.(3325-3327)ATG>GTG	p.M1109V	CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Missense_Mutation_p.M257V|PAN2_uc001skz.2_Missense_Mutation_p.M1108V|PAN2_uc001sky.2_Missense_Mutation_p.M1105V	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1109	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TTTCGGGGCATATGGAACAGG	0.483		NA											24	55					0	0	0	0
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:36700037G>A	uc001uvf.2	-	2	471	c.238C>T	c.(238-240)CGG>TGG	p.R80W		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507		NA											40	122					0	0	0	0
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:45768678C>G	uc001uzx.3	-	2	429	c.25G>C	c.(25-27)GAA>CAA	p.E9Q	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388		NA											93	160					0	0	0	0
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:46721156T>A	uc001vaz.3	-	10	1187	c.1061A>T	c.(1060-1062)GAT>GTT	p.D354V	LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.D354V	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	354	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532		NA	T	BCL6	NHL 								25	59					0	0	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:114112358G>A	uc001vtr.1	-	7	805	c.766C>T	c.(766-768)CGC>TGC	p.R256C	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.R123C	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	256											0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443		NA									OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	446					0	0	0	0
JPH4	84502	broad.mit.edu	37	14	24045205	24045205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:24045205C>G	uc001wkq.2	-	4	1758	c.840G>C	c.(838-840)GAG>GAC	p.E280D	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.E280D|JPH4_uc001wks.2_Missense_Mutation_p.E280D	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	280	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCGTACACCTCTGTGGCCG	0.622		NA											3	8					0	0	0	0
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:43027800C>T	uc001zql.2	-	4	968	c.851G>A	c.(850-852)GGA>GAA	p.G284E	CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	284						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGTGAGGCTTCCTGTCCGGCT	0.572		NA											62	30					0	0	0	0
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:44143363G>A	uc001zti.1	+	9	1134	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	371	WD 2.										0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458		NA											9	193					0	0	0	0
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:49059304A>G	uc001zwy.2	-	17	2267	c.2233T>C	c.(2233-2235)TTG>CTG	p.L745L	CEP152_uc001zwz.2_Silent_p.L745L|CEP152_uc001zxa.1_Silent_p.L652L	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	745	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423		NA											178	103					0	0	0	0
C16orf73	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1894871G>C	uc002cne.2	-	10	990	c.872C>G	c.(871-873)TCC>TGC	p.S291C	C16orf73_uc010uvq.1_Missense_Mutation_p.S291C|C16orf73_uc010uvr.1_Missense_Mutation_p.S84C	NM_152764	NP_689977	Q8N635	CP073_HUMAN	hypothetical protein LOC254528 isoform 2	291					meiosis	cytoplasm					0						ACAATTTATGGATTCTTTGAA	0.308		NA											18	12					0	0	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:2086358C>T	uc002coi.2	+	3	567	c.448C>T	c.(448-450)CGG>TGG	p.R150W	SLC9A3R2_uc002coj.2_Missense_Mutation_p.R150W|SLC9A3R2_uc002cok.2_Missense_Mutation_p.R39W	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	solute carrier family 9 isoform 3 regulator 2	150	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)	1						GCTGCGCCCTCGGCTCTGCCA	0.667		NA											10	11					0	0	0	0
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:31391868G>T	uc002ebu.1	+	28	3266	c.3199G>T	c.(3199-3201)GTG>TTG	p.V1067L	ITGAX_uc002ebt.2_Missense_Mutation_p.V1067L	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1067	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGTGTCGGTCGTGAGTGTGGC	0.562		NA											21	23					1.87e-06	1.99e-06	1	0
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:54967589G>A	uc002ehv.2	+	3	1256	c.1256G>A	c.(1255-1257)GGA>GAA	p.G419E	IRX5_uc002ehw.2_Missense_Mutation_p.G353E	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	419					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						GGCTCCTTCGGACACCTTCAT	0.637		NA											20	79					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:58557303A>T	uc002env.2	-	47	7181	c.6888T>A	c.(6886-6888)AAT>AAA	p.N2296K	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.N2291K|CNOT1_uc002ent.2_Missense_Mutation_p.N234K|CNOT1_uc010vik.1_Missense_Mutation_p.N1253K	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413		NA											35	164					0	0	0	0
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:68849489C>T	uc002ewg.1	+	10	1516	c.1392C>T	c.(1390-1392)GTC>GTT	p.V464V	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.V403V	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	464	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498		NA	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				69	66					0	0	0	0
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:3195526C>T	uc002fvh.1	-	1	351	c.351G>A	c.(349-351)CTG>CTA	p.L117L		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						TGGCGGTCAGCAGGAAGCAGT	0.597		NA											40	92					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7577141C>T	uc002gim.2	-	8	991	c.797G>A	c.(796-798)GGA>GAA	p.G266E	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			18	38					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7579521C>A	uc002gim.2	-	4	360	c.166G>T	c.(166-168)GAA>TAA	p.E56*	TP53_uc002gig.1_Nonsense_Mutation_p.E56*|TP53_uc002gih.2_Nonsense_Mutation_p.E56*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E56*|TP53_uc010cni.1_Nonsense_Mutation_p.E56*|TP53_uc002gij.2_Nonsense_Mutation_p.E56*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E17*|TP53_uc010cnk.1_Nonsense_Mutation_p.E71*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	56	TADII.|Interaction with HRMT1L2.		E -> V (in a sporadic cancer; somatic mutation).|E -> K (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.E56*(4)|p.E56K(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.E56E(1)|p.E56V(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)		CCTGGGTCTTCAGTGAACCAT	0.597		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)			85	197					9.01e-43	1.04e-42	1	0
TBC1D26	353149	broad.mit.edu	37	17	15641646	15641646	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:15641646G>T	uc010cov.2	+	7	582	c.332G>T	c.(331-333)TGG>TTG	p.W111L	TBC1D26_uc010cou.1_Missense_Mutation_p.W111L|TBC1D26_uc002gpb.3_RNA	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	111	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GGCCGGGCGTGGTCACTTTTG	0.507		NA											5	92					7.08e-05	7.42e-05	1	0
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:45291173C>T	uc002ilg.2	+	3	272	c.144C>T	c.(142-144)TTC>TTT	p.F48F	MYL4_uc002ilh.2_Silent_p.F48F	NM_001002841	NP_001002841	P12829	MYL4_HUMAN	atrial/embryonic alkali myosin light chain	48					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			ovary(2)	2						AGATAGACTTCACTGCCGACC	0.403		NA											84	150					0	0	0	0
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:76754297C>T	uc002lmt.2	+	2	2306	c.2306C>T	c.(2305-2307)ACG>ATG	p.T769M	SALL3_uc010dra.2_Missense_Mutation_p.T376M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637		NA											17	28					0	0	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:8435950G>C	uc002mjq.1	+	5	867	c.672G>C	c.(670-672)TGG>TGC	p.W224C	ANGPTL4_uc002mjr.1_Missense_Mutation_p.W186C|ANGPTL4_uc010xkc.1_Missense_Mutation_p.W57C	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	224	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						ATGGAGGCTGGACAGTAATTC	0.587		NA											10	16					0	0	0	0
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:10655726C>G	uc002mov.2	+	3	533	c.413C>G	c.(412-414)TCG>TGG	p.S138W	ATG4D_uc010xlg.1_Missense_Mutation_p.S161W|ATG4D_uc010xlh.1_Missense_Mutation_p.S75W|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	138					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632		NA											18	266					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:17088291C>T	uc002nfb.2	-	15	1818	c.1786G>A	c.(1786-1788)GTG>ATG	p.V596M		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	549						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CTGGGGGTCACGGCCAGATGA	0.592		NA											29	51					0	0	0	0
NCAN	1463	broad.mit.edu	37	19	19338359	19338359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:19338359C>G	uc002nlz.2	+	8	2029	c.1930C>G	c.(1930-1932)CTA>GTA	p.L644V	NCAN_uc010ecc.1_Missense_Mutation_p.L208V	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	644					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			AGAGTGGATGCTACCACACCC	0.637		NA											9	73					0	0	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:58850657G>A	uc002qsc.2	+	3	1588	c.1441G>A	c.(1441-1443)GTT>ATT	p.V481I	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481	C2H2-type 8.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587		NA											28	44					0	0	0	0
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:21233522A>G	uc002red.2	-	26	6346	c.6218T>C	c.(6217-6219)TTT>TCT	p.F2073S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2073	Heparin-binding.				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)	GGTCTCAAAAAATGGGAGGTT	0.358		NA											59	102					0	0	0	0
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Missense_Mutation	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:25061315G>A	uc002rfs.3	-	7	1731	c.1532C>T	c.(1531-1533)TCG>TTG	p.S511L	ADCY3_uc002rfr.3_Missense_Mutation_p.S144L|ADCY3_uc010ykm.1_Missense_Mutation_p.S511L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	511	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.398		NA											12	67					0	0	0	0
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:27600997A>C	uc002rkk.2	-	4	1241	c.1041T>G	c.(1039-1041)GGT>GGG	p.G347G	ZNF513_uc002rkj.2_Silent_p.G285G	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					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)					CCCCACTGGCACCCCCTCCAG	0.662		NA											10	52					0	0	0	0
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:66739354T>C	uc002sdu.2	+	8	1273	c.816T>C	c.(814-816)CGT>CGC	p.R272R	MEIS1_uc002sdt.2_Silent_p.R272R|MEIS1_uc002sdv.2_Silent_p.R270R|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.R207R|MEIS1_uc002sdw.1_Silent_p.R128R	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	272	Homeobox; TALE-type.						sequence-specific DNA binding transcription factor activity				0						ACAAAAAGCGTCACAAAAAGC	0.438		NA											16	14					0	0	0	0
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:95713749C>T	uc002stx.1	+	2	198	c.139C>T	c.(139-141)CCC>TCC	p.P47S	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.P47S|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	47	MARVEL.|Extracellular (Potential).				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632		NA											37	82					0	0	0	0
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:98355850C>A	uc002syd.1	+	14	1956	c.1749C>A	c.(1747-1749)CGC>CGA	p.R583R	ZAP70_uc002sye.1_Silent_p.R473R|ZAP70_uc002syf.1_Silent_p.R276R	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	583	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGGAGGATCGCCCCGACTTCC	0.657		NA											22	41					3.62e-10	3.96e-10	1	0
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:152135384T>C	uc002txi.2	-	4	628	c.298A>G	c.(298-300)ATA>GTA	p.I100V	NMI_uc010zbx.1_Missense_Mutation_p.I100V|NMI_uc002txj.2_Missense_Mutation_p.I68V	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	100					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338		NA											19	51					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179501212C>G	uc010zfg.1	-	174	33762	c.33538G>C	c.(33538-33540)GTT>CTT	p.V11180L	TTN_uc010zfh.1_Missense_Mutation_p.V4875L|TTN_uc010zfi.1_Missense_Mutation_p.V4808L|TTN_uc010zfj.1_Missense_Mutation_p.V4683L|TTN_uc010fre.1_Missense_Mutation_p.V1041L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12107							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)			GAAAGTTGAACATCAATGATG	0.418		NA											30	161					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179597359T>C	uc010zfg.1	-	53	12921	c.12697A>G	c.(12697-12699)ACT>GCT	p.T4233A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T894A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5160							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)			GTGAGAGGAGTAGATCCTTGG	0.468		NA											23	67					0	0	0	0
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:203745631T>C	uc002uzl.2	-	13	1974	c.1224A>G	c.(1222-1224)AAA>AAG	p.K408K	WDR12_uc010ftt.2_3'UTR	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	408	Sufficient for nucleolar localization.|WD 7.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						AGGAATACAATTTATTGTCTG	0.323		NA											28	23					0	0	0	0
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:225662626T>A	uc010fwz.1	-	42	4806	c.4567A>T	c.(4567-4569)ATG>TTG	p.M1523L	DOCK10_uc002vob.2_Missense_Mutation_p.M1517L|DOCK10_uc002voa.2_Missense_Mutation_p.M179L|DOCK10_uc002voc.2_Missense_Mutation_p.M377L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408		NA											51	58					0	0	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:235951774C>A	uc002vvp.2	+	4	2754	c.2361C>A	c.(2359-2361)TGC>TGA	p.C787*	SH3BP4_uc010fym.2_Nonsense_Mutation_p.C787*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.C787*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582		NA											13	15					1.68e-08	1.82e-08	1	0
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:30432595G>A	uc002wwt.1	-	1	826	c.751C>T	c.(751-753)CGG>TGG	p.R251W		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	251					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 activator activity|transcription factor binding			ovary(1)	1						GCCTGCAGCCGACACTGGTAG	0.617		NA											13	47					0	0	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:47630398G>C	uc002xtx.3	+	30	4232	c.4080G>C	c.(4078-4080)AAG>AAC	p.K1360N	ARFGEF2_uc010zyf.1_Missense_Mutation_p.K653N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1360					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473		NA											42	153					0	0	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:31534395A>G	uc003aka.2	-	3	778	c.649T>C	c.(649-651)TTT>CTT	p.F217L		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	217	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CATTGCTGAAACCTGCCCCAG	0.483		NA											11	51					0	0	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:37491963T>C	uc003aqs.1	-	5	713	c.599A>G	c.(598-600)GAG>GGG	p.E200G	TMPRSS6_uc003aqt.1_Missense_Mutation_p.E191G|TMPRSS6_uc003aqu.2_Missense_Mutation_p.E191G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200	Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CACTAGGCCCTCGGGGTCCAC	0.647		NA											36	81					0	0	0	0
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:15616518G>A	uc003caf.2	-	10	1035	c.875C>T	c.(874-876)CCT>CTT	p.P292L	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.P265L|HACL1_uc011avt.1_Missense_Mutation_p.P266L|HACL1_uc003cag.2_Intron|HACL1_uc011avu.1_Missense_Mutation_p.P210L|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	292					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						ATATCTTGGAGGCAGTCCAAA	0.343		NA											18	18					0	0	0	0
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:121207907G>C	uc003eee.3	-	16	4000	c.3871C>G	c.(3871-3873)CTA>GTA	p.L1291V	POLQ_uc003eed.2_Missense_Mutation_p.L463V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1291					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333		NA						DNA_polymerases_(catalytic_subunits)					64	200					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:122645415G>A	uc003efz.1	-	9	1264	c.960C>T	c.(958-960)CGC>CGT	p.R320R	SEMA5B_uc011bju.1_Silent_p.R262R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R320R|SEMA5B_uc010hro.1_Silent_p.R262R|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	320	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617		NA											19	58					0	0	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:130454754G>C	uc003enj.2	-	3	1407	c.826C>G	c.(826-828)CAA>GAA	p.Q276E		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TTTAGCACTTGTTCAGGGAAA	0.333		NA											44	182					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:150903227G>A	uc003eyp.2	+	11	1643	c.1605G>A	c.(1603-1605)AGG>AGA	p.R535R	MED12L_uc011bnz.1_Silent_p.R395R|MED12L_uc003eyn.2_Silent_p.R535R|MED12L_uc003eyo.2_Silent_p.R535R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	535					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478		NA											20	51					0	0	0	0
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G	rs114936842	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:9784853C>G	uc003gmb.3	+	1	1596	c.1200C>G	c.(1198-1200)ATC>ATG	p.I400M		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	400	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592		NA											3	66					0	0	0	0
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:71227862T>G	uc003hfg.1	+	2	111	c.30T>G	c.(28-30)CTT>CTG	p.L10L	SMR3B_uc011cas.1_Silent_p.L10L	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	10						extracellular region					0		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338		NA											60	187					0	0	0	0
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:74702557G>A	uc003hhf.2	+	1	285	c.90G>A	c.(88-90)CCG>CCA	p.P30P	IL8_uc011cbh.1_Intron	NM_002993	NP_002984	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6 (granulocyte	30					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716		NA											3	56					0	0	0	0
C4orf37	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:98480263G>T	uc003htt.1	-	11	1416	c.1326C>A	c.(1324-1326)TCC>TCA	p.S442S		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	442											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TTTTCTCCTGGGATATCTGTT	0.279		NA											64	75					3.87e-20	4.38e-20	1	0
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:123140523A>G	uc003ieh.2	+	19	2321	c.2276A>G	c.(2275-2277)TAT>TGT	p.Y759C	KIAA1109_uc003iei.1_Missense_Mutation_p.Y513C|KIAA1109_uc010ins.1_Missense_Mutation_p.Y103C|KIAA1109_uc003iej.1_Missense_Mutation_p.Y144C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	759					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GATGACATGTATATGGATTTT	0.353		NA											73	209					0	0	0	0
TMEM154	201799	broad.mit.edu	37	4	153601078	153601078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:153601078G>A	uc003imw.1	-	1	114	c.8C>T	c.(7-9)GCT>GTT	p.A3V		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor	3						integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGCGCGGGGAGCCTGCATGTC	0.642		NA											5	14					0	0	0	0
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:10433762C>T	uc003jet.1	+	26	2882	c.2699C>T	c.(2698-2700)TCA>TTA	p.S900L	MARCH6_uc011cmu.1_Missense_Mutation_p.S852L|MARCH6_uc003jeu.1_Missense_Mutation_p.S598L|MARCH6_uc011cmv.1_Missense_Mutation_p.S795L|uc003jev.1_5'Flank	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	900	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						AAACAAGGCTCATCTCCACCA	0.443		NA											23	54					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:11397249G>A	uc003jfa.1	-	6	651	c.506C>T	c.(505-507)CCG>CTG	p.P169L	CTNND2_uc010itt.2_Missense_Mutation_p.P78L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GTAGCTGGCCGGATACTGGAA	0.587		NA											44	74					0	0	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:128365282G>C	uc003kuy.2	+	10	1961	c.1565G>C	c.(1564-1566)AGA>ACA	p.R522T	SLC27A6_uc003kuz.2_Missense_Mutation_p.R522T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	522					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303		NA											23	67					0	0	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:136448238C>T	uc003lbo.2	-	4	551	c.360G>A	c.(358-360)GGG>GGA	p.G120G	SPOCK1_uc003lbp.2_Silent_p.G120G	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	120					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488		NA											22	70					0	0	0	0
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:4892155A>T	uc003mwi.2	+	4	526	c.395A>T	c.(394-396)AAT>ATT	p.N132I	CDYL_uc003mwj.2_Missense_Mutation_p.N78I|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	132					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483		NA											41	45					0	0	0	0
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:27420364T>C	uc003njj.2	-	5	1785	c.974A>G	c.(973-975)CAG>CGG	p.Q325R	ZNF184_uc010jqv.2_Missense_Mutation_p.Q325R|ZNF184_uc003nji.2_Missense_Mutation_p.Q325R	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	325	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGAATTCTCTGATGCTGAAC	0.403		NA											32	42					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:28264676C>G	uc003nky.2	+	5	1096	c.726C>G	c.(724-726)CTC>CTG	p.L242L	PGBD1_uc003nkz.2_Silent_p.L242L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GGAGGAACCTCTGTGGGAACT	0.512		NA											4	80					0	0	0	0
MUC21	394263	broad.mit.edu	37	6	30954534	30954534	+	Silent	SNP	T	T	A	rs140790308	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:30954534T>A	uc003nsh.2	+	2	833	c.582T>A	c.(580-582)ACT>ACA	p.T194T	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	194	Ser-rich.|28 X 15 AA approximate tandem repeats.|11.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGGCCAGCACTGCCACCAACT	0.612		NA											9	197					0	0	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:86328538T>C	uc003pla.2	-	10	1819	c.1278A>G	c.(1276-1278)CAA>CAG	p.Q426Q	SYNCRIP_uc003pku.2_Silent_p.Q426Q|SYNCRIP_uc003pkw.2_Silent_p.Q391Q|SYNCRIP_uc003pky.2_Silent_p.Q328Q|SYNCRIP_uc003pkv.2_Silent_p.Q426Q|SYNCRIP_uc003pkx.2_Silent_p.Q274Q|SYNCRIP_uc003pkz.2_Silent_p.Q391Q	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	426	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.303		NA											7	19					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	93956564	93956565	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956564_93956565TC>AA	uc003poe.2	-	15	2912_2913	c.2671_2672GA>TT	c.(2671-2673)GAC>TTC	p.D891F	EPHA7_uc003pof.2_Missense_Mutation_p.D886F|EPHA7_uc011eac.1_Missense_Mutation_p.D887F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	891	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCCA	0.431		NA											44	112					0	0	0	0
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:96651080A>G	uc003pop.3	+	3	390	c.49A>G	c.(49-51)ATT>GTT	p.I17V		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	17	Helical; Signal-anchor for type II membrane protein; (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423		NA											69	119					0	0	0	0
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:107955178G>A	uc003prx.2	+	6	1634	c.1130G>A	c.(1129-1131)GGC>GAC	p.G377D		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	377	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647		NA											47	97					0	0	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:111912597G>A	uc011ebc.1	-	3	1308	c.693C>T	c.(691-693)CTC>CTT	p.L231L	TRAF3IP2_uc003pvg.2_Silent_p.L231L|TRAF3IP2_uc003pvf.2_Silent_p.L231L|TRAF3IP2_uc010kdw.2_Silent_p.L231L|TRAF3IP2_uc010kdx.2_Silent_p.L231L	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	240					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572		NA											62	99					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:144779962A>C	uc003qkt.2	+	19	2433	c.2341A>C	c.(2341-2343)AAG>CAG	p.K781Q	UTRN_uc010khq.1_Missense_Mutation_p.K781Q	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.|Spectrin 5.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338		NA											36	103					0	0	0	0
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:151672560T>C	uc011eep.1	+	4	3274	c.3034T>C	c.(3034-3036)TCC>CCC	p.S1012P	AKAP12_uc003qoe.2_Missense_Mutation_p.S1012P|AKAP12_uc003qof.2_Missense_Mutation_p.S914P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S907P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1012					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577		NA											3	77					0	0	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:6077129T>C	uc003spp.2	-	11	1404	c.1258A>G	c.(1258-1260)ACA>GCA	p.T420A	EIF2AK1_uc003spq.2_Missense_Mutation_p.T419A|EIF2AK1_uc011jwm.1_Missense_Mutation_p.T296A	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	420	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323		NA											58	173					0	0	0	0
TMEM195	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:15601453G>T	uc003stb.1	-	1	188	c.18C>A	c.(16-18)GCC>GCA	p.A6A		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	6					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CATCCTGCTGGGCTTCTGGGT	0.443		NA											35	150					2.68e-12	2.97e-12	1	0
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:35242348G>C	uc011kas.1	-	8	1049	c.1038C>G	c.(1036-1038)CTC>CTG	p.L346L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	346						nucleus	DNA binding			central_nervous_system(1)	1						CCCAGGAGCTGAGAGACAAAT	0.438		NA											3	18					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38431514G>A	uc003tgu.2	-	19	1782	c.1713C>T	c.(1711-1713)GAC>GAT	p.D571D	AMPH_uc003tgv.2_Silent_p.D529D|AMPH_uc003tgt.2_Silent_p.D456D|AMPH_uc003tgw.1_Silent_p.D594D|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GAGGAGCCGCGTCCTCGGTGG	0.607		NA											19	96					0	0	0	0
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:63726517C>T	uc003tsx.2	+	5	775	c.506C>T	c.(505-507)TCA>TTA	p.S169L		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGCAAATTTTCAAATTCCAAT	0.313		NA											14	25					0	0	0	0
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:73118115C>G	uc003tyx.2	-	7	537	c.510G>C	c.(508-510)GAG>GAC	p.E170D	WBSCR22_uc003tyw.1_3'UTR|STX1A_uc003tyy.2_Missense_Mutation_p.E170D|STX1A_uc010lbj.1_Missense_Mutation_p.E170D	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1	170	Cytoplasmic (Potential).				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637		NA											50	84					0	0	0	0
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:95019514G>C	uc003unt.2	-	3	178	c.153C>G	c.(151-153)GGC>GGG	p.G51G	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Silent_p.G51G	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	51					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TATCTTCAGAGCCACTTTCTG	0.378		NA											101	225					0	0	0	0
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:102982244G>A	uc003vbo.2	-	2	473	c.222C>T	c.(220-222)CCC>CCT	p.P74P	DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Silent_p.P74P|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Silent_p.P74P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TTTTCAGCATGGGAAACTCTT	0.373		NA											57	115					0	0	0	0
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:16032716G>T	uc003wwz.2	-	3	395	c.197C>A	c.(196-198)CCT>CAT	p.P66H	MSR1_uc010lsu.2_Missense_Mutation_p.P84H|MSR1_uc003wxa.2_Missense_Mutation_p.P66H|MSR1_uc003wxb.2_Missense_Mutation_p.P66H|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	66	Helical; Signal-anchor for type II membrane protein; (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413		NA											25	61					4.27e-12	4.7e-12	1	0
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:48845609G>C	uc003xqi.2	-	16	1804	c.1747C>G	c.(1747-1749)CTT>GTT	p.L583V	PRKDC_uc003xqj.2_Missense_Mutation_p.L583V|PRKDC_uc011ldh.1_Missense_Mutation_p.L583V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	583					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTATTTCAAGTGTAAGATCC	0.299		NA						NHEJ					8	28					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:55537622A>G	uc003xsd.1	+	4	1328	c.1180A>G	c.(1180-1182)ATG>GTG	p.M394V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	394					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)			TGTGTCACCTATGGAGCGAAG	0.423		NA											29	105					0	0	0	0
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:108972911C>T	uc003yms.2	-	4	1076	c.418G>A	c.(418-420)GAA>AAA	p.E140K	RSPO2_uc003ymq.2_Missense_Mutation_p.E73K|RSPO2_uc003ymr.2_Missense_Mutation_p.E77K	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	140					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348		NA											22	149					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:139606419G>A	uc003yvd.2	-	63	4903	c.4456C>T	c.(4456-4458)CAG>TAG	p.Q1486*	COL22A1_uc011ljo.1_Nonsense_Mutation_p.Q766*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582		NA								HNSCC(7;0.00092)			101	78					0	0	0	0
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:96437264G>C	uc004aub.2	+	19	2829	c.2682G>C	c.(2680-2682)AAG>AAC	p.K894N	PHF2_uc011lug.1_Missense_Mutation_p.K777N|PHF2_uc004auc.2_Missense_Mutation_p.K314N	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582		NA											17	94					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139412212C>T	uc004chz.2	-	8	1433	c.1433G>A	c.(1432-1434)TGC>TAC	p.C478Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	478	Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			104	29					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139905642C>T	uc011mem.1	-	37	6064	c.5916G>A	c.(5914-5916)AAG>AAA	p.K1972K	ABCA2_uc011mel.1_Silent_p.K1973K|ABCA2_uc004ckl.1_Silent_p.K1903K|ABCA2_uc004ckm.1_Silent_p.K2003K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1972					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607		NA											34	119					0	0	0	0
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:6638981_6638982insT	uc001ant.2	+	6	1863_1864	c.1863_1864insT	c.(1861-1866)GGCTTCfs	p.G621fs	TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	621_622	Helical; Name=2; (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599		NA											9	111	---	---	---	---	NA	NA	NA	NA
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152276467_152276468insGGA	uc001ezu.1	-	3	10930_10931	c.10894_10895insTCC	c.(10894-10896)CAG>CTCCAG	p.3631_3632insL		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3631_3632	Filaggrin 22.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554		NA							Ichthyosis				7	967	---	---	---	---	NA	NA	NA	NA
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:18636375_18636376insA	uc001moy.2	-	3	1661_1662	c.1445_1446insT	c.(1444-1446)TTGfs	p.L482fs	SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.L482fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	482	Ser-rich.									breast(1)	1						CCGGGGGGCCCAAGCCACTCAC	0.589		NA											16	102	---	---	---	---	NA	NA	NA	NA
SPRYD5	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55653610delA	uc010rip.1	+	3	515	c.423delA	c.(421-423)CTAfs	p.L141fs	SPRYD5_uc010riq.1_5'UTR	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	141						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				AGGAGCTCCTAAAAAAAATGC	0.403		NA											21	63	---	---	---	---	NA	NA	NA	NA
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:11546320_11546322delTTG	uc010shk.1	-	3	725_727	c.690_692delCAA	c.(688-693)AACAAG>AAG	p.N230del		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601		NA											8	889	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49431260_49431264delCTGGG	uc001rta.3	-	34	9875_9879	c.9875_9879delCCCAG	c.(9874-9879)GCCCAGfs	p.A3292fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3292_3293	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AAGACATGGCCTGGGCAGGGCCTGG	0.522		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			6	4	---	---	---	---	NA	NA	NA	NA
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:20825824_20825825insGCG	uc001vxc.2	+	16	1648_1649	c.1620_1621insGCG	c.(1618-1623)insGCG	p.541_542insA	PARP2_uc001vxd.2_In_Frame_Ins_p.528_529insA|PARP2_uc001vxb.1_3'UTR	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	541_542	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416		NA						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					44	130	---	---	---	---	NA	NA	NA	NA
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:23299408_23299409insG	uc001wgw.3	+	3	132_133	c.102_103insG	c.(100-105)GCTGCCfs	p.A34fs	MRPL52_uc001wgx.3_Frame_Shift_Ins_p.A33fs|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Frame_Shift_Ins_p.A34fs	NM_178336	NP_848026	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52 isoform a	34_35					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594		NA											7	183	---	---	---	---	NA	NA	NA	NA
RPAP1	26015	broad.mit.edu	37	15	41814429	41814430	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:41814429_41814430insC	uc001zod.2	-	20	2885_2886	c.2761_2762insG	c.(2761-2763)GCCfs	p.A921fs	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	921	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGTCCCGGGGCAGCCAATATG	0.569		NA											22	45	---	---	---	---	NA	NA	NA	NA
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:3119304_3119305insG	uc002cto.2	+	6	864_865	c.653_654insG	c.(652-654)GACfs	p.D218fs	IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						CCACGGGGGGACAAGGAGGAGC	0.574		NA											31	279	---	---	---	---	NA	NA	NA	NA
C18orf1	753	broad.mit.edu	37	18	13621261	13621262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:13621261_13621262insC	uc002ksa.2	+	5	995_996	c.327_328insC	c.(325-330)GGGCTGfs	p.G109fs	C18orf1_uc002ksb.2_Frame_Shift_Ins_p.G109fs|C18orf1_uc002kse.2_Frame_Shift_Ins_p.G72fs|C18orf1_uc002ksf.2_Frame_Shift_Ins_p.G72fs|C18orf1_uc002ksg.1_Frame_Shift_Ins_p.G32fs|C18orf1_uc002ksh.1_Frame_Shift_Ins_p.G51fs|C18orf1_uc002ksi.1_Frame_Shift_Ins_p.G51fs	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	109_110	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		GGGAGGACGGGCTGCCGCAGGT	0.639		NA											7	88	---	---	---	---	NA	NA	NA	NA
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:21511088_21511089insG	uc002kuq.2	+	65	8585_8586	c.8499_8500insG	c.(8497-8502)GGCAGCfs	p.G2833fs	LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2833_2834	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGATAGCGGCAGCCCAATTTT	0.411		NA											8	191	---	---	---	---	NA	NA	NA	NA
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:23438215delG	uc002zwu.1	+	2	870	c.333delG	c.(331-333)ACGfs	p.T111fs	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687		NA											77	166	---	---	---	---	NA	NA	NA	NA
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:187089105_187089106delTG	uc003frm.2	+	2	747_748	c.685_686delTG	c.(685-687)TGTfs	p.C229fs		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	229	Helical; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421		NA											62	63	---	---	---	---	NA	NA	NA	NA
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:30494800_30494801insA	uc003tav.2	-	5	851_852	c.328_329insT	c.(328-330)TCCfs	p.S110fs	NOD1_uc010kvs.2_Frame_Shift_Ins_p.S110fs	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	110					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CAGGGAAGGGGAGAAGCCGATC	0.614		NA											25	140	---	---	---	---	NA	NA	NA	NA
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:117185698_117185699insC	uc004biz.3	-	7	2170_2171	c.1521_1522insG	c.(1519-1524)CAGCCCfs	p.Q507fs	DFNB31_uc004bix.2_Frame_Shift_Ins_p.Q156fs|DFNB31_uc004biy.3_Frame_Shift_Ins_p.Q124fs|DFNB31_uc004bja.3_Frame_Shift_Ins_p.Q507fs	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	507_508					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGCCTGGGGGCTGCCGCGCCT	0.639		NA											68	243	---	---	---	---	NA	NA	NA	NA
FPGS	2356	broad.mit.edu	37	9	130570884	130570885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:130570884_130570885insC	uc004bsg.1	+	10	920_921	c.870_871insC	c.(868-873)GGGCCGfs	p.G290fs	FPGS_uc004bsh.1_Frame_Shift_Ins_p.G107fs|FPGS_uc011mal.1_Frame_Shift_Ins_p.G264fs|FPGS_uc004bsi.1_Frame_Shift_Ins_p.G240fs	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	290_291					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	AGGAAGGGGGGCCGCCGCTGAC	0.698		NA											14	41	---	---	---	---	NA	NA	NA	NA
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:131939365delC	uc010myt.1	-	1	1176	c.967delG	c.(967-969)GCCfs	p.A323fs		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	immediate early response 5-like	323											0		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.537		NA											16	15	---	---	---	---	NA	NA	NA	NA