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
EIF3I	8668	broad.mit.edu	37	1	32696783	32696783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:32696783G>A	uc001bur.3	+	12	1497	c.964G>A	c.(964-966)GAG>AAG	p.E322K	EIF3I_uc009vuc.2_Missense_Mutation_p.E322K|EIF3I_uc001bus.2_Missense_Mutation_p.E274K	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	322	WD 5.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTTCGAATTTGAGTTTGAGGC	0.328		NA											8	35					0	0	0	0
MAST2	23139	broad.mit.edu	37	1	46476424	46476424	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:46476424G>A	uc001cov.2	+	10	1284	c.1001G>A	c.(1000-1002)CGA>CAA	p.R334Q	MAST2_uc001cow.2_Missense_Mutation_p.R334Q|MAST2_uc001coy.1_Missense_Mutation_p.R42Q|MAST2_uc001coz.1_Missense_Mutation_p.R219Q|MAST2_uc009vya.2_Missense_Mutation_p.R256Q|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	334					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGGAAGAGCGACTAGCAGAG	0.502		NA											7	33					0	0	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370495	53370495	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:53370495C>T	uc001cup.3	-	7	771	c.525G>A	c.(523-525)CAG>CAA	p.Q175Q	ECHDC2_uc001cun.2_Silent_p.Q98Q|ECHDC2_uc001cuo.3_Silent_p.Q144Q|ECHDC2_uc010onk.1_Silent_p.Q129Q	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	175					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						GGGGCAGCCTCTGAGTCCCTC	0.622		NA											9	26					0	0	0	0
PGM1	5236	broad.mit.edu	37	1	64095639	64095639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:64095639A>T	uc001dbh.2	+	3	649	c.436A>T	c.(436-438)AAA>TAA	p.K146*	PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Nonsense_Mutation_p.K164*	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	146					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						AATAACTGATAAAATTTTCCA	0.418		NA											17	53					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75078403	75078403	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:75078403G>A	uc001dgg.2	-	9	1310	c.1091C>T	c.(1090-1092)TCC>TTC	p.S364F	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S158F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	364										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TTCACAACAGGAGCTTAACCT	0.443		NA											8	33					0	0	0	0
SAMD13	148418	broad.mit.edu	37	1	84768891	84768891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:84768891G>C	uc001djr.2	+	2	208	c.16G>C	c.(16-18)GAA>CAA	p.E6Q	SAMD13_uc010orw.1_5'UTR|SAMD13_uc010orx.1_5'UTR	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13 isoform	12											0				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388		NA											12	34					0	0	0	0
HS2ST1	9653	broad.mit.edu	37	1	87538634	87538634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:87538634C>T	uc010osk.1	+	2	527	c.142C>T	c.(142-144)CAC>TAC	p.H48Y	HS2ST1_uc001dmc.3_Missense_Mutation_p.H48Y|LOC339524_uc001dme.1_Missense_Mutation_p.H9Y	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	48	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TATTGCAAGACACGAAGTCCG	0.408		NA											9	19					0	0	0	0
TRIM45	80263	broad.mit.edu	37	1	117661121	117661121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:117661121C>G	uc001egz.2	-	2	1345	c.757G>C	c.(757-759)GAG>CAG	p.E253Q	TRIM45_uc009whe.2_Missense_Mutation_p.E253Q|TRIM45_uc001eha.2_Missense_Mutation_p.E149Q	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	253						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567		NA											10	52					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301725	145301725	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:145301725G>A	uc001end.3	+	7	1029	c.994G>A	c.(994-996)GAA>AAA	p.E332K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E332K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E61K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	332											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTCAGAATATGAAGAGTGCAA	0.507		NA											33	385					0	0	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128225	156128225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:156128225C>T	uc001fnl.2	+	5	514	c.410C>T	c.(409-411)ACC>ATC	p.T137I	SEMA4A_uc009wrq.2_Missense_Mutation_p.T137I|SEMA4A_uc001fnm.2_Missense_Mutation_p.T137I|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Missense_Mutation_p.T137I	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	137	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TACAATGTCACCCATCTCTAC	0.532		NA											32	130					0	0	0	0
OR10K2	391107	broad.mit.edu	37	1	158390345	158390345	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:158390345G>A	uc010pii.1	-	1	312	c.312C>T	c.(310-312)TTC>TTT	p.F104F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CAAGGAAGAGGAAGGAAAACA	0.488		NA											12	102					0	0	0	0
F5	2153	broad.mit.edu	37	1	169484729	169484729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:169484729C>T	uc001ggg.1	-	24	6626	c.6481G>A	c.(6481-6483)GGA>AGA	p.G2161R		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2161	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATTCCACTCCCTGCTCACTG	0.443		NA											30	148					0	0	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834726	178834726	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:178834726C>T	uc001gma.2	-	3	662	c.186G>A	c.(184-186)GGG>GGA	p.G62G	RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.G62G|ANGPTL1_uc010pnc.1_Intron	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	62						extracellular space	receptor binding				0						CACAGATTGGCCCTGTTATTC	0.443		NA											3	47					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	185953402	185953402	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:185953402C>T	uc001grq.1	+	19	3121	c.2892C>T	c.(2890-2892)AAC>AAT	p.N964N	HMCN1_uc001grr.1_Silent_p.N305N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	964	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGGCCAGTAACGTTGCTGGGA	0.433		NA											19	114					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197060123	197060123	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:197060123G>C	uc001gtu.2	-	23	9750	c.9493C>G	c.(9493-9495)CAT>GAT	p.H3165D	ASPM_uc001gtv.2_Missense_Mutation_p.H1580D|ASPM_uc001gtw.3_Missense_Mutation_p.H1013D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3165					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGATGCTATGATATTTCTGA	0.353		NA											9	58					0	0	0	0
NAV1	89796	broad.mit.edu	37	1	201789046	201789046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:201789046C>T	uc001gwu.2	+	29	5958	c.5611C>T	c.(5611-5613)CAG>TAG	p.Q1871*	NAV1_uc001gwx.2_Nonsense_Mutation_p.Q1480*	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1874					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCCCAACCTTCAGGCAACACT	0.522		NA											6	60					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216373392	216373392	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:216373392C>T	uc001hku.1	-	17	3775	c.3388G>A	c.(3388-3390)GTG>ATG	p.V1130M	USH2A_uc001hkv.2_Missense_Mutation_p.V1130M	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1130	Extracellular (Potential).|Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACCATGCACATTGGTGGTC	0.363		NA								HNSCC(13;0.011)			19	72					0	0	0	0
MIA3	375056	broad.mit.edu	37	1	222832101	222832101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:222832101G>C	uc001hnl.2	+	19	4654	c.4645G>C	c.(4645-4647)GAG>CAG	p.E1549Q	MIA3_uc001hnm.2_Missense_Mutation_p.E427Q	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1549	Cytoplasmic (Potential).|Potential.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GCAAGAAAGAGAGCACAGGCT	0.423		NA											3	186					0	0	0	0
OR2M7	391196	broad.mit.edu	37	1	248487682	248487682	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:248487682G>A	uc010pzk.1	-	1	189	c.189C>T	c.(187-189)CTC>CTT	p.L63L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTTGGCTGAGGAGGAAGT	0.527		NA											45	246					0	0	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407109	38407109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:38407109C>T	uc001izk.2	+	8	1849	c.1030C>T	c.(1030-1032)CAA>TAA	p.Q344*	ZNF37A_uc001izl.2_Nonsense_Mutation_p.Q344*|ZNF37A_uc001izm.2_Nonsense_Mutation_p.Q344*	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	344	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						AACCCTTACTCAACATCAAAG	0.398		NA											11	74					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48388281	48388281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:48388281G>A	uc001jez.2	-	1	2711	c.2597C>T	c.(2596-2598)ACG>ATG	p.T866M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	866	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCCAATGACCGTGGCCCGCTG	0.637		NA											6	34					0	0	0	0
CCDC109A	90550	broad.mit.edu	37	10	74628472	74628472	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:74628472C>T	uc001jtc.2	+	5	529	c.508C>T	c.(508-510)CAT>TAT	p.H170Y	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Missense_Mutation_p.H121Y	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	170	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					CCTCTTAAGTCATGAAAATGC	0.383		NA											14	74					0	0	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846273	78846273	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:78846273G>A	uc001jxn.2	-	11	1590	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	KCNMA1_uc001jxj.2_Silent_p.L471L|KCNMA1_uc001jxk.1_Silent_p.L86L|KCNMA1_uc009xrt.1_Silent_p.L291L|KCNMA1_uc001jxl.1_Silent_p.L125L|KCNMA1_uc001jxo.2_Silent_p.L471L|KCNMA1_uc001jxm.2_Silent_p.L471L|KCNMA1_uc001jxq.2_Silent_p.L471L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	471	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATGTGGATTGAGGACGGAAC	0.483		NA											10	49					0	0	0	0
PSD	5662	broad.mit.edu	37	10	104172143	104172143	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104172143G>A	uc001kvg.1	-	6	2270	c.1743C>T	c.(1741-1743)GGC>GGT	p.G581G	PSD_uc001kvh.1_Silent_p.G202G|PSD_uc009xxd.1_Silent_p.G581G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	581	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTTACTTCTTGCCCAGGTGCC	0.602		NA											4	43					0	0	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184420	104184420	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104184420G>A	uc001kvn.2	-	3	355	c.204C>T	c.(202-204)TTC>TTT	p.F68F	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	68						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGATGTGGGCGAAGCCAGGCA	0.597		NA											13	82					0	0	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685713	121685713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121685713G>A	uc001leu.1	+	13	2359	c.2287G>A	c.(2287-2289)GAA>AAA	p.E763K	SEC23IP_uc010qtc.1_Missense_Mutation_p.E552K|SEC23IP_uc009xzk.1_RNA	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	763					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGAATTATGAATCTTTTGA	0.433		NA											19	92					0	0	0	0
SEC23IP	11196	broad.mit.edu	37	10	121689932	121689932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121689932G>C	uc001leu.1	+	15	2633	c.2561G>C	c.(2560-2562)AGA>ACA	p.R854T	SEC23IP_uc010qtc.1_Missense_Mutation_p.R643T|SEC23IP_uc009xzk.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	854	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCAGAAAAAGACTTCATTTA	0.313		NA											13	54					0	0	0	0
CUZD1	50624	broad.mit.edu	37	10	124608956	124608956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:124608956C>G	uc001lgs.2	-	2	372	c.-579_splice	c.e2-1		CUZD1_uc010qtz.1_Intron|FAM24B_uc001lgt.2_Intron	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTGCAGCTCTTGAGAAAAG	0.483		NA											13	59					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	606519	606519	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:606519C>G	uc001lqe.2	+	13	1663	c.1532C>G	c.(1531-1533)TCG>TGG	p.S511W	PHRF1_uc010qwc.1_Missense_Mutation_p.S510W|PHRF1_uc010qwd.1_Missense_Mutation_p.S509W|PHRF1_uc010qwe.1_Missense_Mutation_p.S507W|PHRF1_uc009ybz.1_Missense_Mutation_p.S301W|PHRF1_uc009yca.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	511							RNA polymerase binding|zinc ion binding				0						AGCATCCTGTCGGGCCAGAGC	0.687		NA											4	19					0	0	0	0
IRF7	3665	broad.mit.edu	37	11	613228	613228	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:613228G>A	uc001lqh.2	-	9	1585	c.1215C>T	c.(1213-1215)TTC>TTT	p.F405F	IRF7_uc009ycb.2_Silent_p.F299F|IRF7_uc010qwf.1_Silent_p.F404F|IRF7_uc001lqf.2_Silent_p.F112F|IRF7_uc010qwg.1_Silent_p.F112F|IRF7_uc001lqg.2_Silent_p.F418F|IRF7_uc001lqi.2_Silent_p.F376F|IRF7_uc010qwh.1_Silent_p.F112F	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	405					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTGAAGTCGAAGATGGGGG	0.652		NA											5	15					0	0	0	0
CTR9	9646	broad.mit.edu	37	11	10794110	10794110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:10794110C>T	uc001mja.2	+	20	2637	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	830					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTGGCCCGGGCACGCAA	0.453		NA											14	42					0	0	0	0
INSC	387755	broad.mit.edu	37	11	15222370	15222370	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:15222370G>A	uc001mly.2	+	7	881	c.835G>A	c.(835-837)GAG>AAG	p.E279K	INSC_uc001mlz.2_Missense_Mutation_p.E232K|INSC_uc001mma.2_Missense_Mutation_p.E232K|INSC_uc010rcs.1_Missense_Mutation_p.E267K|INSC_uc001mmb.2_Missense_Mutation_p.E232K|INSC_uc001mmc.2_Intron	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	279					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CTCTTGGCAGGAGGGTGGGGT	0.547		NA											4	30					0	0	0	0
DGKZ	8525	broad.mit.edu	37	11	46393102	46393102	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:46393102C>T	uc001ncn.1	+	9	1397	c.1272C>T	c.(1270-1272)CAC>CAT	p.H424H	DGKZ_uc001nch.1_Silent_p.H252H|DGKZ_uc010rgq.1_Silent_p.H179H|DGKZ_uc001ncj.1_Silent_p.H202H|DGKZ_uc010rgr.1_Silent_p.H201H|DGKZ_uc001nck.1_Silent_p.H14H|DGKZ_uc001ncl.2_Silent_p.H236H|DGKZ_uc001ncm.2_Silent_p.H235H|DGKZ_uc009yky.1_Silent_p.H236H|DGKZ_uc010rgs.1_Silent_p.H213H	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	424					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGGGGGTCCACGCAGCCGTGG	0.687		NA											7	20					0	0	0	0
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:64029989G>A	uc001nzb.2	+	18	2149	c.2149G>A	c.(2149-2151)GAG>AAG	p.E717K	PLCB3_uc009ypg.1_Missense_Mutation_p.E717K|PLCB3_uc009yph.1_Missense_Mutation_p.E650K|PLCB3_uc009ypi.2_Missense_Mutation_p.E717K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	717	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CCCCTTCACTGAGGTCATCGT	0.647		NA											18	42					0	0	0	0
MLL	4297	broad.mit.edu	37	11	118362545	118362545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:118362545C>T	uc001pta.2	+	15	4920	c.4897C>T	c.(4897-4899)CGA>TGA	p.R1633*	MLL_uc001ptb.2_Nonsense_Mutation_p.R1636*|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1633					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGCAGAGTGGCGACTGGCCCT	0.468		NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								14	32					0	0	0	0
SPSB2	84727	broad.mit.edu	37	12	6980481	6980481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:6980481C>T	uc001qrl.2	-	3	823	c.667G>A	c.(667-669)GAG>AAG	p.E223K	SPSB2_uc001qrm.2_Missense_Mutation_p.E223K|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	223	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						GAGTGTGGCTCCGCTGGGAGA	0.617		NA											5	36					0	0	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18719918	18719918	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:18719918C>T	uc001rdt.2	+	28	3931	c.3815C>T	c.(3814-3816)TCA>TTA	p.S1272L	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.S1313L|PIK3C2G_uc010sic.1_Missense_Mutation_p.S1091L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	1272	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TTTACAAATTCAGATCACAGA	0.289		NA											11	76					0	0	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422497	21422497	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:21422497C>T	uc001rer.2	-	14	2249	c.1998G>A	c.(1996-1998)TTG>TTA	p.L666L	SLCO1A2_uc001res.2_Silent_p.L666L|SLCO1A2_uc010siq.1_Silent_p.L534L|SLCO1A2_uc010sio.1_Silent_p.L534L|SLCO1A2_uc010sip.1_Silent_p.L534L	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	666	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ATTTAGTTTTCAATTCATCAT	0.299		NA											18	87					0	0	0	0
KIAA0528	9847	broad.mit.edu	37	12	22680820	22680820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:22680820C>T	uc001rfq.2	-	4	412	c.184G>A	c.(184-186)GAT>AAT	p.D62N	KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.D62N|KIAA0528_uc010sit.1_Missense_Mutation_p.D62N|KIAA0528_uc010siu.1_Missense_Mutation_p.D62N|KIAA0528_uc001rfr.2_Missense_Mutation_p.D62N|KIAA0528_uc009ziy.1_Missense_Mutation_p.D62N	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	62	C2.						protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AAGTCTTCATCATCCACCTAC	0.313		NA											6	57					0	0	0	0
SOX5	6660	broad.mit.edu	37	12	23818434	23818434	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:23818434G>T	uc001rfw.2	-	7	977	c.875C>A	c.(874-876)GCA>GAA	p.A292E	SOX5_uc001rfx.2_Missense_Mutation_p.A279E|SOX5_uc001rfy.2_Missense_Mutation_p.A279E|SOX5_uc010siv.1_Missense_Mutation_p.A279E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A244E	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	292					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CTGGGCAGCTGCAGCCAGTGT	0.507		NA											61	95					9.54e-28	1.05e-27	1	0
ITPR2	3709	broad.mit.edu	37	12	26592150	26592150	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:26592150C>T	uc001rhg.2	-	47	6970	c.6553G>A	c.(6553-6555)GAA>AAA	p.E2185K	ITPR2_uc009zjg.1_Missense_Mutation_p.E336K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2185	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCATCCCTTTCAGTTGTATTG	0.403		NA											13	88					0	0	0	0
BICD1	636	broad.mit.edu	37	12	32369208	32369208	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:32369208C>T	uc001rku.2	+	2	322	c.241C>T	c.(241-243)CGG>TGG	p.R81W	BICD1_uc001rkv.2_Missense_Mutation_p.R81W|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	81	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)			CTCCATCCACCGGAAGGTTGC	0.468		NA											11	28					0	0	0	0
SYT10	341359	broad.mit.edu	37	12	33535294	33535294	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:33535294C>T	uc001rll.1	-	5	1657	c.1360G>A	c.(1360-1362)GAT>AAT	p.D454N	SYT10_uc009zju.1_Missense_Mutation_p.D264N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	454	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTATCGTAATCCATGACCGCA	0.458		NA											6	47					0	0	0	0
CNTN1	1272	broad.mit.edu	37	12	41352971	41352971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:41352971G>A	uc001rmm.1	+	15	1852	c.1739G>A	c.(1738-1740)AGA>AAA	p.R580K	CNTN1_uc009zjy.1_Missense_Mutation_p.R580K|CNTN1_uc001rmn.1_Missense_Mutation_p.R569K|CNTN1_uc001rmo.2_Missense_Mutation_p.R580K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	580	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATGCTGGAAGATACACATGC	0.388		NA											13	53					0	0	0	0
DIP2B	57609	broad.mit.edu	37	12	51108292	51108292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:51108292C>G	uc001rwv.2	+	23	2920	c.2764C>G	c.(2764-2766)CTG>GTG	p.L922V	DIP2B_uc009zlt.2_Missense_Mutation_p.L352V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	922						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						ACAACTCTTTCTGGAGGGATC	0.473		NA											15	64					0	0	0	0
KRT4	3851	broad.mit.edu	37	12	53201525	53201525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:53201525G>A	uc001saz.2	-	7	1742	c.1471C>T	c.(1471-1473)CGA>TGA	p.R491*		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	417						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						CGCAGCATTCGTGCCAGCTCC	0.602		NA											19	58					0	0	0	0
CDK17	5128	broad.mit.edu	37	12	96728558	96728558	+	Silent	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:96728558A>G	uc001tep.1	-	2	546	c.57T>C	c.(55-57)GAT>GAC	p.D19D	CDK17_uc009ztk.2_Silent_p.D19D|CDK17_uc010svb.1_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	19							ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						ACAATGATTCATCAATAGTCT	0.368		NA											7	30					0	0	0	0
RASAL1	8437	broad.mit.edu	37	12	113544929	113544929	+	Missense_Mutation	SNP	G	G	A	rs61759863		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:113544929G>A	uc001tum.1	-	16	1923	c.1630C>T	c.(1630-1632)CGG>TGG	p.R544W	RASAL1_uc010syp.1_Missense_Mutation_p.R544W|RASAL1_uc001tul.2_Missense_Mutation_p.R544W|RASAL1_uc001tun.1_Missense_Mutation_p.R545W|RASAL1_uc010syq.1_Missense_Mutation_p.R544W|RASAL1_uc001tuo.3_Missense_Mutation_p.R544W|RASAL1_uc010syr.1_3'UTR	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	544					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TCCACCAGCCGGTCCAGGAAG	0.607		NA											16	35					0	0	0	0
GPR133	283383	broad.mit.edu	37	12	131475580	131475580	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:131475580C>T	uc001uit.3	+	7	1326	c.767C>T	c.(766-768)TCA>TTA	p.S256L	GPR133_uc010tbm.1_Missense_Mutation_p.S288L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	256	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTATTGTCTTCAACGCTGCCA	0.468		NA											6	17					0	0	0	0
ULK1	8408	broad.mit.edu	37	12	132404541	132404541	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:132404541G>A	uc001uje.2	+	26	3089	c.2821G>A	c.(2821-2823)GAG>AAG	p.E941K		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	941					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGGCTGAATGAGCTGTACAA	0.642		NA											11	44					0	0	0	0
NHLRC3	387921	broad.mit.edu	37	13	39618234	39618234	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:39618234G>A	uc001uxc.2	+	5	916	c.594G>A	c.(592-594)ATG>ATA	p.M198I	NHLRC3_uc001uxb.1_Missense_Mutation_p.M198I|NHLRC3_uc001uxd.2_Missense_Mutation_p.M131I|NHLRC3_uc001uxe.2_Missense_Mutation_p.M1I	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	198						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TAGATTTCATGATCCTTTGGC	0.373		NA											44	198					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70456505	70456505	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:70456505C>A	uc001vip.2	-	5	1931	c.1137G>T	c.(1135-1137)TTG>TTT	p.L379F	KLHL1_uc010thm.1_Missense_Mutation_p.L318F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	379					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCACATCATCAATGCATGGA	0.438		NA											26	56					1.03e-24	1.14e-24	1	0
RBM26	64062	broad.mit.edu	37	13	79894788	79894788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:79894788C>T	uc001vkz.2	-	22	3012	c.2998G>A	c.(2998-3000)GAG>AAG	p.E1000K	RBM26_uc001vky.2_Missense_Mutation_p.E971K|RBM26_uc001vla.2_Missense_Mutation_p.E974K|RBM26_uc010tia.1_3'UTR|RBM26_uc001vkx.2_Missense_Mutation_p.E710K	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	998					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATTGTCCTCTTCTTCTTCA	0.328		NA											6	43					0	0	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368921	86368921	+	Missense_Mutation	SNP	T	T	C	rs34019808		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:86368921T>C	uc001vll.1	-	2	2182	c.1723A>G	c.(1723-1725)ATG>GTG	p.M575V	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	575	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGTTGGCATGGATGGGTTA	0.448		NA											18	78					0	0	0	0
ERCC5	2073	broad.mit.edu	37	13	103514661	103514661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:103514661C>T	uc001vpw.2	+	8	1605	c.1162C>T	c.(1162-1164)CTT>TTT	p.L388F	ERCC5_uc001vpu.1_Missense_Mutation_p.L842F|ERCC5_uc010tjb.1_Missense_Mutation_p.L388F|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.L220F	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	388					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCCGGACTCTTTCAGCCAT	0.532		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				12	39					0	0	0	0
NGDN	25983	broad.mit.edu	37	14	23940186	23940186	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:23940186G>A	uc001wjy.2	+	3	171	c.144G>A	c.(142-144)AAG>AAA	p.K48K	NGDN_uc001wjz.2_Silent_p.K48K	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	48	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTACAGAAAAGGTAAGATGTA	0.299		NA											13	48					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30095738	30095738	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:30095738A>T	uc001wqh.2	-	12	1931	c.1750T>A	c.(1750-1752)TTT>ATT	p.F584I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	584	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCATCAGGAAAAATCTGATAT	0.308		NA											5	45					0	0	0	0
MBIP	51562	broad.mit.edu	37	14	36780830	36780830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:36780830C>A	uc001wtm.2	-	6	827	c.739G>T	c.(739-741)GCT>TCT	p.A247S	MBIP_uc001wto.2_Missense_Mutation_p.A247S|MBIP_uc010tpy.1_Missense_Mutation_p.A106S|MBIP_uc001wtn.2_Missense_Mutation_p.A247S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	247	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTTCTACAGCCTGATTACCA	0.443		NA											18	43					4.97e-08	5.32e-08	1	0
NID2	22795	broad.mit.edu	37	14	52496406	52496406	+	Missense_Mutation	SNP	C	C	G	rs17853445		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:52496406C>G	uc001wzo.2	-	10	2494	c.2260G>C	c.(2260-2262)GAT>CAT	p.D754H	NID2_uc010tqs.1_Missense_Mutation_p.D754H|NID2_uc010tqt.1_Missense_Mutation_p.D754H|NID2_uc001wzp.2_Missense_Mutation_p.D754H	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	754	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTCTGAATCCTCTGCATGA	0.502		NA											4	31					0	0	0	0
SPTB	6710	broad.mit.edu	37	14	65262207	65262207	+	Missense_Mutation	SNP	G	G	A	rs144624027		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:65262207G>A	uc001xht.2	-	11	1546	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C	SPTB_uc001xhr.2_Missense_Mutation_p.R498C|SPTB_uc001xhs.2_Missense_Mutation_p.R498C|SPTB_uc001xhu.2_Missense_Mutation_p.R498C	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	498	Spectrin 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGTGATGCGCTTCTGGTCA	0.627		NA											16	49					0	0	0	0
PCNX	22990	broad.mit.edu	37	14	71540300	71540300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:71540300G>A	uc001xmo.2	+	27	5337	c.4891G>A	c.(4891-4893)GAA>AAA	p.E1631K	PCNX_uc010are.1_Missense_Mutation_p.E1520K|PCNX_uc010arf.1_Missense_Mutation_p.E419K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1631						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATTACTGAAGGTGTAGA	0.448		NA											22	62					0	0	0	0
FBLN5	10516	broad.mit.edu	37	14	92403316	92403316	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:92403316C>T	uc001xzx.3	-	4	827	c.354G>A	c.(352-354)CAG>CAA	p.Q118Q	FBLN5_uc010aud.2_Silent_p.Q123Q|FBLN5_uc010aue.2_Silent_p.Q159Q	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	118					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				TTTCATCCATCTGGTATCCAA	0.507		NA											26	81					0	0	0	0
GANC	2595	broad.mit.edu	37	15	42584947	42584947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:42584947C>G	uc001zpi.2	+	5	658	c.344C>G	c.(343-345)TCT>TGT	p.S115C	GANC_uc001zph.2_Missense_Mutation_p.S115C|GANC_uc001zpj.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	115					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATTTCATGCTCTGGGGACACA	0.423		NA											16	60					0	0	0	0
TP53BP1	7158	broad.mit.edu	37	15	43766895	43766895	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:43766895G>A	uc001zrs.2	-	10	1289	c.1141C>T	c.(1141-1143)CCC>TCC	p.P381S	TP53BP1_uc010udp.1_Missense_Mutation_p.P381S|TP53BP1_uc001zrq.3_Missense_Mutation_p.P386S|TP53BP1_uc001zrr.3_Missense_Mutation_p.P386S|TP53BP1_uc010udq.1_Missense_Mutation_p.P386S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	381					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCTGTGGGACTGCTAGGA	0.413		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					9	20					0	0	0	0
SMAD3	4088	broad.mit.edu	37	15	67482855	67482855	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67482855G>A	uc002aqj.2	+	9	1557	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	SMAD3_uc010ujr.1_Missense_Mutation_p.R315H|SMAD3_uc010ujs.1_Missense_Mutation_p.R376H|SMAD3_uc010ujt.1_Missense_Mutation_p.R225H	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	420	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCAAGCATCCGCTGTTCCAGT	0.547		NA											4	14					0	0	0	0
IQCH	64799	broad.mit.edu	37	15	67664726	67664726	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67664726C>T	uc002aqo.1	+	9	1078	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	IQCH_uc010ujv.1_Missense_Mutation_p.S163L|IQCH_uc002aqn.1_Missense_Mutation_p.S171L|IQCH_uc002aqq.1_Missense_Mutation_p.S92L|IQCH_uc002aqp.1_Missense_Mutation_p.S96L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	344										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		GACCTTCTCTCAGTGTTAGAG	0.443		NA											22	56					0	0	0	0
SGK269	79834	broad.mit.edu	37	15	77473608	77473608	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:77473608C>T	uc002bcm.2	-	3	969	c.661G>A	c.(661-663)GAA>AAA	p.E221K	SGK269_uc002bcn.2_Missense_Mutation_p.E221K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	221					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CGGCCCCCTTCATTACTAATC	0.473		NA											29	137					0	0	0	0
PRC1	9055	broad.mit.edu	37	15	91527353	91527353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:91527353C>T	uc002bqm.2	-	3	319	c.162G>A	c.(160-162)ATG>ATA	p.M54I	PRC1_uc002bqn.2_Missense_Mutation_p.M54I|PRC1_uc002bqo.2_Missense_Mutation_p.M54I|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.M2I	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	54	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCAGCAATCATCATATCCA	0.428		NA											50	274					0	0	0	0
MEFV	4210	broad.mit.edu	37	16	3304662	3304662	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304662C>T	uc002cun.1	-	2	446	c.406G>A	c.(406-408)GGG>AGG	p.G136R		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	136					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GCTCCGCCCCCGTACGGCCGA	0.701		NA											5	31					0	0	0	0
ERCC4	2072	broad.mit.edu	37	16	14041533	14041533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:14041533G>C	uc002dce.2	+	11	2089	c.2080G>C	c.(2080-2082)GAG>CAG	p.E694Q	ERCC4_uc010uyz.1_Missense_Mutation_p.E244Q	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	694	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						ATTTCGAAGTGAGCTTCCATC	0.468		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				7	122					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20976685	20976685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:20976685C>G	uc010vbe.1	-	53	8521	c.8521G>C	c.(8521-8523)GAG>CAG	p.E2841Q	DNAH3_uc010vbd.1_Missense_Mutation_p.E276Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2841	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTAAGACTCTCCAAGAATTTC	0.423		NA											4	151					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	21069481	21069481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:21069481G>C	uc010vbe.1	-	27	3850	c.3850C>G	c.(3850-3852)CAG>GAG	p.Q1284E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1284	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATAACCACCTGTCCAGGCCAC	0.483		NA											8	48					0	0	0	0
ZNF785	146540	broad.mit.edu	37	16	30594258	30594258	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:30594258C>T	uc002dyw.1	-	3	919	c.841G>A	c.(841-843)GAG>AAG	p.E281K	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.E266K|ZNF785_uc010vez.1_Missense_Mutation_p.E246K	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGGGCTTCTCGCCCGTGTGC	0.642		NA											5	44					0	0	0	0
STX4	6810	broad.mit.edu	37	16	31045559	31045559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:31045559C>T	uc002eal.2	+	3	369	c.145C>T	c.(145-147)CGG>TGG	p.R49W	STX4_uc002eak.2_Missense_Mutation_p.R47W|STX4_uc002eam.2_5'UTR	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	49	Cytoplasmic (Potential).|Potential.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						CCGGACAATTCGGCAGACTAT	0.577		NA											34	179					0	0	0	0
CNGB1	1258	broad.mit.edu	37	16	57994394	57994394	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:57994394G>A	uc002emt.2	-	9	640	c.575C>T	c.(574-576)TCA>TTA	p.S192L	CNGB1_uc010cdh.2_Intron|CNGB1_uc002emu.2_Missense_Mutation_p.S192L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	192	Pro-rich.			Missing (in Ref. 4; AAC04830).	sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ACCTGGGTCTGAGGCAGCACC	0.647		NA											3	20					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72821592	72821592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72821592G>A	uc002fck.2	-	10	11256	c.10583C>T	c.(10582-10584)TCG>TTG	p.S3528L	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.S2614L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3528					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCAGTGGTACGAgccgccgcc	0.393		NA											11	26					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72992974	72992974	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72992974G>A	uc002fck.2	-	2	1744	c.1071C>T	c.(1069-1071)CTC>CTT	p.L357L	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	357					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CGGGGCCTATGAGGTTAGCTG	0.507		NA											24	77					0	0	0	0
SPG7	6687	broad.mit.edu	37	16	89619531	89619531	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:89619531G>A	uc002fnj.2	+	14	1945	c.1924G>A	c.(1924-1926)GAG>AAG	p.E642K	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_Missense_Mutation_p.E51K	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	642	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTCCTTCAACGAGGTCACTTC	0.602		NA											3	10					0	0	0	0
CAMKK1	84254	broad.mit.edu	37	17	3773161	3773161	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:3773161G>C	uc002fwt.2	-	13	1240	c.1146C>G	c.(1144-1146)CTC>CTG	p.L382L	CAMKK1_uc002fwu.2_Silent_p.L382L|CAMKK1_uc002fwv.2_Silent_p.L420L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	382	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCAGGTCCTTGAGCTCCTCGC	0.587		NA											9	40					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			10	29					0	0	0	0
RPL26	6154	broad.mit.edu	37	17	8285520	8285520	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8285520C>G	uc002glh.1	-	2	205	c.109G>C	c.(109-111)GAG>CAG	p.E37Q		NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	37					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TGTCTCAGCTCTTTGGAAAGA	0.448		NA											9	48					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8387530	8387530	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8387530C>T	uc002gll.2	-	35	5104	c.5008G>A	c.(5008-5010)GAG>AAG	p.E1670K	MYH10_uc002glm.2_Missense_Mutation_p.E1701K|MYH10_uc010cnx.2_Missense_Mutation_p.E1679K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1670	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GCAAAAATCTCATCTCTGGAT	0.373		NA											11	71					0	0	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792140	8792140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8792140C>T	uc002glt.2	-	10	1031	c.964G>A	c.(964-966)GAG>AAG	p.E322K	PIK3R5_uc010vuz.1_Missense_Mutation_p.E322K|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.K270K|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	322				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						tcttcctcctcttcATCATCT	0.473		NA											3	25					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10408181	10408181	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:10408181T>G	uc002gmo.2	-	22	2731	c.2637A>C	c.(2635-2637)GAA>GAC	p.E879D	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	879	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TAACCATTTTTTCTTCCAGCT	0.423		NA											13	54					0	0	0	0
ZNF287	57336	broad.mit.edu	37	17	16456726	16456726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:16456726C>A	uc002gqi.2	-	6	1183	c.730G>T	c.(730-732)GCC>TCC	p.A244S		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	237					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGCTTGGGCTTTAGTTTCC	0.313		NA											21	61					3.62e-10	3.93e-10	1	0
FLII	2314	broad.mit.edu	37	17	18155348	18155348	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:18155348C>A	uc002gsr.1	-	11	1262	c.1211G>T	c.(1210-1212)GGT>GTT	p.G404V	FLII_uc002gsq.1_Missense_Mutation_p.G276V|FLII_uc010cpy.1_Missense_Mutation_p.G393V|FLII_uc010vxn.1_Missense_Mutation_p.G373V|FLII_uc010vxo.1_Missense_Mutation_p.G350V|FLII_uc002gss.1_Missense_Mutation_p.G404V	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	404	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					AGGAGAGGCACCCGCTAGCCG	0.637		NA											11	57					5.04e-11	5.48e-11	1	0
SLC6A4	6532	broad.mit.edu	37	17	28548952	28548952	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:28548952G>C	uc002hey.3	-	3	569	c.25C>G	c.(25-27)CAG>GAG	p.Q9E		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	9	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGCTGCTTCTGAGAATTCAAG	0.502		NA											15	41					0	0	0	0
ACACA	31	broad.mit.edu	37	17	35614787	35614787	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:35614787C>T	uc002hnm.2	-	14	1744	c.1553G>A	c.(1552-1554)GGT>GAT	p.G518D	ACACA_uc002hnk.2_Missense_Mutation_p.G440D|ACACA_uc002hnl.2_Missense_Mutation_p.G460D|ACACA_uc002hnn.2_Missense_Mutation_p.G518D|ACACA_uc002hno.2_Missense_Mutation_p.G555D|ACACA_uc010cuz.2_Missense_Mutation_p.G518D	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	518	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGCTTAAAACCCTGTTAGAG	0.388		NA											16	53					0	0	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382487	56382487	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:56382487C>T	uc002ivx.3	-	30	6350	c.5479G>A	c.(5479-5481)GAG>AAG	p.E1827K	BZRAP1_uc002ivv.2_Missense_Mutation_p.E57K|BZRAP1_uc002ivw.2_Missense_Mutation_p.E59K|BZRAP1_uc010dcs.2_Missense_Mutation_p.E1767K|BZRAP1_uc010wnt.1_Missense_Mutation_p.E1818K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1827	SH3 3.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCCTCCAGGAAGTTG	0.637		NA											8	38					0	0	0	0
CBX2	84733	broad.mit.edu	37	17	77758352	77758352	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:77758352C>T	uc002jxc.2	+	5	1152	c.1110C>T	c.(1108-1110)CTC>CTT	p.L370L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	370					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTGGGTCTCCTTGCCCGCC	0.697		NA											4	27					0	0	0	0
THOC1	9984	broad.mit.edu	37	18	214778	214778	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:214778C>A	uc002kkj.3	-	21	1862	c.1822G>T	c.(1822-1824)GAC>TAC	p.D608Y	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.D232Y	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	608	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATCTTCATGTCTTCACTGTCA	0.448		NA											14	62					1.36e-06	1.45e-06	1	0
LPIN2	9663	broad.mit.edu	37	18	2931287	2931287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:2931287C>T	uc002klo.2	-	9	1662	c.1423G>A	c.(1423-1425)GGG>AGG	p.G475R		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	475					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGAGGCCCCCGCAAAGGGAG	0.522		NA											7	24					0	0	0	0
CXXC1	30827	broad.mit.edu	37	18	47810778	47810778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:47810778G>A	uc002leq.3	-	9	1908	c.1175C>T	c.(1174-1176)TCA>TTA	p.S392L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.S249L|CXXC1_uc002ler.3_Missense_Mutation_p.S396L|CXXC1_uc010doy.2_Missense_Mutation_p.S392L|CXXC1_uc002les.2_Missense_Mutation_p.S392L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	392					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACAGTCATCTGAGCAATACTT	0.602		NA											14	65					0	0	0	0
WDR7	23335	broad.mit.edu	37	18	54547249	54547249	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:54547249A>G	uc002lgk.1	+	21	3590	c.3379A>G	c.(3379-3381)ATT>GTT	p.I1127V	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.I1094V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1127										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCTACCGCTATTGTTTTACT	0.398		NA											13	46					0	0	0	0
FUT5	2527	broad.mit.edu	37	19	5866613	5866613	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:5866613C>T	uc002mdo.3	-	2	1212	c.1124G>A	c.(1123-1125)TGA>TAA	p.*375*	FUT5_uc010duo.2_Silent_p.*375*	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	375					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						GCCGGCCTCTCAGGTGAACCA	0.632		NA											17	85					0	0	0	0
ZNF557	79230	broad.mit.edu	37	19	7076392	7076392	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:7076392G>A	uc002mgb.2	+	5	585	c.100G>A	c.(100-102)GGC>AGC	p.G34S	ZNF557_uc002mga.2_Missense_Mutation_p.G41S|ZNF557_uc002mgc.2_Missense_Mutation_p.G41S	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		AATGCTTTAGGGCTTGGTGAC	0.582		NA											13	64					0	0	0	0
LPHN1	22859	broad.mit.edu	37	19	14288437	14288437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14288437C>T	uc010xnn.1	-	3	486	c.190G>A	c.(190-192)GGG>AGG	p.G64R	LPHN1_uc010xno.1_Missense_Mutation_p.G64R	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	64	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TCCGTGCGCCCGTAGTTGGCA	0.607		NA											22	83					0	0	0	0
ZNF333	84449	broad.mit.edu	37	19	14829870	14829870	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14829870C>T	uc002mzn.2	+	12	1865	c.1731C>T	c.(1729-1731)CTC>CTT	p.L577L	ZNF333_uc002mzk.3_Silent_p.L468L	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	577	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTCATCCCTCAGGAAACATG	0.522		NA											8	35					0	0	0	0
ZNF91	7644	broad.mit.edu	37	19	23545292	23545292	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:23545292G>A	uc002nre.2	-	4	602	c.489C>T	c.(487-489)TTC>TTT	p.F163F	ZNF91_uc010xrj.1_Silent_p.F131F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	163	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAATTTATAGAAGACTTTCA	0.323		NA											15	38					0	0	0	0
ZNF527	84503	broad.mit.edu	37	19	37879380	37879380	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:37879380G>A	uc010efk.1	+	5	540	c.429G>A	c.(427-429)GCG>GCA	p.A143A	ZNF527_uc002ogf.3_Silent_p.A111A|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAAATGCGGAGAGGCATT	0.428		NA											18	40					0	0	0	0
ZFP36	7538	broad.mit.edu	37	19	39898933	39898933	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:39898933C>G	uc002olh.1	+	2	633	c.575C>G	c.(574-576)TCT>TGT	p.S192C	ZFP36_uc010egn.1_Missense_Mutation_p.L65V	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	192					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTGCCCTCTGGCCGCCGG	0.692		NA											33	103					0	0	0	0
ADCK4	79934	broad.mit.edu	37	19	41209472	41209472	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:41209472A>C	uc002oor.2	-	9	1075	c.773T>G	c.(772-774)CTC>CGC	p.L258R	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.L217R	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	258	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCTCATCTTGAGTACCGCCAG	0.622		NA											9	24					0	0	0	0
TMEM145	284339	broad.mit.edu	37	19	42822026	42822026	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:42822026A>C	uc002otk.1	+	12	1118	c.1066A>C	c.(1066-1068)ACC>CCC	p.T356P		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	356	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				TGCTGCCTATACCCTCTGGTG	0.557		NA											7	44					0	0	0	0
NLRP13	126204	broad.mit.edu	37	19	56436023	56436023	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:56436023C>T	uc010ygg.1	-	3	415	c.390G>A	c.(388-390)GGG>GGA	p.G130G		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	130							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTGCATATTCCCTGAAATAA	0.418		NA											10	41					0	0	0	0
ZNF549	256051	broad.mit.edu	37	19	58046527	58046527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:58046527G>A	uc002qpb.1	+	3	337	c.88G>A	c.(88-90)GAG>AAG	p.E30K	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Missense_Mutation_p.E30K|ZNF549_uc002qpa.1_Missense_Mutation_p.E17K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTTTGAGGATATTGC	0.502		NA											10	45					0	0	0	0
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:1921002C>T	uc002qxe.2	-	11	2420	c.1593G>A	c.(1591-1593)CCG>CCA	p.P531P	MYT1L_uc002qxd.2_Silent_p.P529P|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531	C2HC-type 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562		NA											4	187					0	0	0	0
WDR35	57539	broad.mit.edu	37	2	20145565	20145565	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20145565G>A	uc002rdi.2	-	17	1968	c.1860C>T	c.(1858-1860)TTC>TTT	p.F620F	WDR35_uc002rdj.2_Silent_p.F609F|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.F185F|WDR35_uc002rdk.3_Silent_p.F185F	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	620										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTTTCTGAAAACATACA	0.343		NA											41	142					0	0	0	0
MATN3	4148	broad.mit.edu	37	2	20192895	20192895	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20192895C>G	uc002rdl.2	-	8	1501	c.1438G>C	c.(1438-1440)GAA>CAA	p.E480Q		NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	480	By similarity.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCATATTCATTTATTTTC	0.328		NA											6	44					0	0	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856219	54856219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:54856219G>C	uc002rxu.2	+	14	2197	c.1948G>C	c.(1948-1950)GAG>CAG	p.E650Q	SPTBN1_uc002rxv.1_Missense_Mutation_p.E650Q|SPTBN1_uc002rxx.2_Missense_Mutation_p.E637Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	650	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GATGGCAGAAGAGGAAGGCTG	0.597		NA											18	91					0	0	0	0
EXOC6B	23233	broad.mit.edu	37	2	72945272	72945272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:72945272C>T	uc010fep.2	-	6	767	c.629G>A	c.(628-630)CGC>CAC	p.R210H	EXOC6B_uc002sij.2_Missense_Mutation_p.R210H	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	210					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TGAATGTTTGCGGATGCTCTC	0.423		NA											4	66					0	0	0	0
POTEF	728378	broad.mit.edu	37	2	130832651	130832651	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:130832651G>A	uc010fmh.2	-	17	2794	c.2394C>T	c.(2392-2394)CCC>CCT	p.P798P		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	798	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						GGTGCTCCTCGGGAGCCACAC	0.577		NA											4	136					0	0	0	0
YSK4	80122	broad.mit.edu	37	2	135738407	135738407	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:135738407G>A	uc002tue.1	-	9	3935	c.3904C>T	c.(3904-3906)CGC>TGC	p.R1302C	YSK4_uc002tuf.1_Missense_Mutation_p.R484C|YSK4_uc010fnc.1_Missense_Mutation_p.R436C|YSK4_uc010fnd.1_Missense_Mutation_p.R1189C|YSK4_uc010zbg.1_Missense_Mutation_p.R434C|YSK4_uc002tuh.3_Missense_Mutation_p.R1030C|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1302	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGGCACATGCGCACAAAGTCT	0.493		NA											11	19					0	0	0	0
IFIH1	64135	broad.mit.edu	37	2	163133418	163133418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:163133418C>A	uc002uce.2	-	11	2305	c.2083G>T	c.(2083-2085)GAA>TAA	p.E695*		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	695					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TTTTCATATTCTGGGTTTTCA	0.254		NA											24	68					3.6e-14	3.93e-14	1	0
TTN	7273	broad.mit.edu	37	2	179444106	179444106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179444106C>T	uc010zfg.1	-	269	60171	c.59947G>A	c.(59947-59949)GAC>AAC	p.D19983N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13678N|TTN_uc010zfi.1_Missense_Mutation_p.D13611N|TTN_uc010zfj.1_Missense_Mutation_p.D13486N|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20910							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)			CCCTTTAAGTCAAGATCAGGA	0.393		NA											3	19					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179501496	179501496	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179501496T>G	uc010zfg.1	-	174	33478	c.33254A>C	c.(33253-33255)GAA>GCA	p.E11085A	TTN_uc010zfh.1_Missense_Mutation_p.E4780A|TTN_uc010zfi.1_Missense_Mutation_p.E4713A|TTN_uc010zfj.1_Missense_Mutation_p.E4588A|TTN_uc010fre.1_Missense_Mutation_p.E946A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12012							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)			CCTTTCGGCTTCTATTGGTGA	0.448		NA											16	31					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179516230	179516230	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179516230T>G	uc010zfg.1	-	161	32419	c.32195A>C	c.(32194-32196)AAG>ACG	p.K10732T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11659							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)			AGGCACCTTCTTTTCAGGAAC	0.473		NA											12	41					0	0	0	0
BARD1	580	broad.mit.edu	37	2	215645669	215645669	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:215645669G>C	uc002veu.2	-	4	1064	c.929C>G	c.(928-930)TCT>TGT	p.S310C	BARD1_uc010zjm.1_Missense_Mutation_p.S166C	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	310					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATTTCTTAGATGTAAGATA	0.403		NA							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				23	36					0	0	0	0
FAM134A	79137	broad.mit.edu	37	2	220046144	220046144	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:220046144G>A	uc002vjw.3	+	7	974	c.838G>A	c.(838-840)GAG>AAG	p.E280K	FAM134A_uc010fwc.2_Missense_Mutation_p.E73K|FAM134A_uc002vjx.2_Missense_Mutation_p.E73K	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	280						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGAGACAGAGAGTGAAAG	0.532		NA											14	24					0	0	0	0
COL6A3	1293	broad.mit.edu	37	2	238285728	238285728	+	Silent	SNP	C	C	T	rs115874872	by1000genomes	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:238285728C>T	uc002vwl.2	-	7	3042	c.2757G>A	c.(2755-2757)GCG>GCA	p.A919A	COL6A3_uc002vwo.2_Silent_p.A713A|COL6A3_uc010znj.1_Silent_p.A312A|COL6A3_uc002vwq.2_Silent_p.A713A|COL6A3_uc002vwr.2_Silent_p.A512A|COL6A3_uc010znk.1_Silent_p.A719A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	919	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATAGTCCAGCGCGTAGCCCA	0.527		NA											10	31					0	0	0	0
ANO7	50636	broad.mit.edu	37	2	242135211	242135211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:242135211G>A	uc002wax.2	+	4	525	c.422G>A	c.(421-423)CGG>CAG	p.R141Q	ANO7_uc002waw.2_Missense_Mutation_p.R140Q	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	141	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						AGGACCTGGCGGGAGACTTTT	0.607		NA											14	32					0	0	0	0
TGM3	7053	broad.mit.edu	37	20	2293573	2293573	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:2293573C>T	uc002wfx.3	+	5	667	c.570C>T	c.(568-570)CTC>CTT	p.L190L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	190					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GCATCTGCCTCTCAATCTTGG	0.478		NA											9	193					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10620404	10620404	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:10620404C>T	uc002wnw.2	-	26	3915	c.3399G>A	c.(3397-3399)ACG>ACA	p.T1133T		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1133	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TGATGGGGACCGTGTTGGCCC	0.483		NA							Alagille_Syndrome				29	50					0	0	0	0
PCSK2	5126	broad.mit.edu	37	20	17462559	17462559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:17462559G>A	uc002wpm.2	+	12	2081	c.1761G>A	c.(1759-1761)TGG>TGA	p.W587*	PCSK2_uc002wpl.2_Nonsense_Mutation_p.W568*|PCSK2_uc010zrm.1_Nonsense_Mutation_p.W552*|PCSK2_uc002wpn.2_Nonsense_Mutation_p.W241*	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	587					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGGAGTGGACCCTGATGC	0.622		NA											4	32					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34067178	34067178	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:34067178G>A	uc002xcm.2	+	19	2888	c.2217G>A	c.(2215-2217)GCG>GCA	p.A739A	CEP250_uc010zve.1_Silent_p.A107A	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	739	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAGAAAGCGGCTCTAGAGG	0.612		NA											5	150					0	0	0	0
SYS1	90196	broad.mit.edu	37	20	43995543	43995543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:43995543C>T	uc002xnv.2	+	4	517	c.259C>T	c.(259-261)CGA>TGA	p.R87*	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	87					protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCATCCGGCGAGGAAAGCA	0.567		NA											65	92					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663637	44663637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:44663637G>A	uc010zxl.1	+	2	248	c.172G>A	c.(172-174)GAG>AAG	p.E58K	SLC12A5_uc002xra.2_Missense_Mutation_p.E35K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E35K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	58	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCGACACAGAGAAGGGAAA	0.517		NA											13	74					0	0	0	0
DNAJC5	80331	broad.mit.edu	37	20	62562255	62562255	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:62562255C>T	uc002yhf.2	+	4	543	c.373C>T	c.(373-375)CTG>TTG	p.L125L	DNAJC5_uc002yhg.1_Silent_p.L125L|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	125	Poly-Cys.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctgctgctgtctgtgctgctg	0.483		NA											5	68					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22881273	22881273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:22881273C>T	uc002yld.1	+	16	2428	c.2179C>T	c.(2179-2181)CGG>TGG	p.R727W	NCAM2_uc011acb.1_Missense_Mutation_p.R585W	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	727	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTCTTTATTCGGCAATGTGG	0.468		NA											13	42					0	0	0	0
DSCAM	1826	broad.mit.edu	37	21	41414523	41414523	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:41414523C>T	uc002yyq.1	-	32	5913	c.5461G>A	c.(5461-5463)GCC>ACC	p.A1821T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1821	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCATCTTGGCGTGTTCGTAG	0.517		NA											13	50					0	0	0	0
MX1	4599	broad.mit.edu	37	21	42817972	42817972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:42817972G>C	uc002yzh.2	+	15	2124	c.1177G>C	c.(1177-1179)GAG>CAG	p.E393Q	MX1_uc002yzi.2_Missense_Mutation_p.E393Q|MX1_uc010goq.2_Missense_Mutation_p.E393Q	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	393					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGCAAGGAGAGGAAACTGT	0.398		NA											8	33					0	0	0	0
COL6A1	1291	broad.mit.edu	37	21	47404200	47404200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:47404200G>A	uc002zhu.1	+	3	347	c.245G>A	c.(244-246)CGA>CAA	p.R82Q		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	82	VWFA 1.|N-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGTGACCGAAACCTGGTG	0.682		NA											4	4					0	0	0	0
OSBP2	23762	broad.mit.edu	37	22	31266528	31266528	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:31266528C>T	uc003aiy.1	+	3	1070	c.966C>T	c.(964-966)CTC>CTT	p.L322L	OSBP2_uc011ala.1_Silent_p.L157L|OSBP2_uc010gwc.1_Silent_p.L149L|OSBP2_uc003aix.1_Silent_p.L322L|OSBP2_uc011alb.1_Silent_p.L322L|OSBP2_uc003aiz.1_Silent_p.L322L|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.1_Silent_p.L64L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	322					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						GCAATGACCTCATCGCCAAGC	0.587		NA											6	22					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36702049	36702049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:36702049C>T	uc003apg.2	-	17	2317	c.2086G>A	c.(2086-2088)GGT>AGT	p.G696S	MYH9_uc003aph.1_Missense_Mutation_p.G560S	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	696	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCGAGAACACCGTTGCAGCGC	0.627		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				18	55					0	0	0	0
IL2RB	3560	broad.mit.edu	37	22	37539602	37539602	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539602C>T	uc003aqv.1	-	3	293	c.162G>A	c.(160-162)CTG>CTA	p.L54L		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	54	Extracellular (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGTGTCCTGCAGAGCCCCAT	0.562		NA											15	41					0	0	0	0
IL2RB	3560	broad.mit.edu	37	22	37539642	37539642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539642C>G	uc003aqv.1	-	3	253	c.122G>C	c.(121-123)AGA>ACA	p.R41T		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	41	Extracellular (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATGTTGGCTCTCGAGTTGTA	0.602		NA											14	56					0	0	0	0
SUN2	25777	broad.mit.edu	37	22	39138356	39138356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:39138356C>A	uc003awh.1	-	10	1302	c.1018G>T	c.(1018-1020)GAA>TAA	p.E340*	SUN2_uc011anz.1_Nonsense_Mutation_p.E375*|SUN2_uc011aoa.1_Nonsense_Mutation_p.E329*|SUN2_uc003awi.1_Nonsense_Mutation_p.E340*|SUN2_uc010gxq.1_Nonsense_Mutation_p.E361*|SUN2_uc010gxr.1_Nonsense_Mutation_p.E340*|SUN2_uc010gxs.1_Nonsense_Mutation_p.E340*	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	340	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						AGGGCAGCTTCACGGCGGCTC	0.642		NA											5	36					0.000157383	0.00016491	1	0
FAM19A5	25817	broad.mit.edu	37	22	49103655	49103655	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:49103655C>T	uc003bim.3	+	3	506	c.389C>T	c.(388-390)ACG>ATG	p.T130M	FAM19A5_uc003bio.3_Missense_Mutation_p.T123M	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	130						extracellular region|integral to membrane				large_intestine(1)	1		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAGACCACCACGGTATGTGGC	0.657		NA											55	71					0	0	0	0
SHANK3	85358	broad.mit.edu	37	22	51160628	51160628	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:51160628C>G	uc003bne.1	+	22	4415	c.4415C>G	c.(4414-4416)TCT>TGT	p.S1472C	SHANK3_uc003bnf.1_Missense_Mutation_p.S919C|SHANK3_uc010hbg.1_Missense_Mutation_p.S654C	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1472										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711		NA											4	21					0	0	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115633	15115633	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:15115633C>G	uc003bzm.1	-	14	2625	c.2011G>C	c.(2011-2013)GAG>CAG	p.E671Q	ZFYVE20_uc010hek.1_Missense_Mutation_p.E671Q	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	671	Poly-Glu.|Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						ACTGCTTCCTCCTCCTCGTCC	0.567		NA											4	138					0	0	0	0
RAB5A	5868	broad.mit.edu	37	3	20017653	20017653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:20017653G>A	uc003cbn.2	+	4	965	c.430G>A	c.(430-432)GAT>AAT	p.D144N	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.D130N	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	144					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						AAGAGCAGTAGATTTCCAGGT	0.343		NA											5	24					0	0	0	0
KLHL18	23276	broad.mit.edu	37	3	47385244	47385244	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:47385244G>A	uc003crd.2	+	10	1664	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	KLHL18_uc011bav.1_Missense_Mutation_p.R401H	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	513	Kelch 5.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGCACACGCGCAGGAGCCGG	0.607		NA											4	47					0	0	0	0
ALCAM	214	broad.mit.edu	37	3	105269028	105269028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:105269028G>A	uc003dvx.2	+	12	1972	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	ALCAM_uc003dvw.1_Missense_Mutation_p.E478K|ALCAM_uc003dvy.2_Missense_Mutation_p.E478K|ALCAM_uc010hpp.2_Missense_Mutation_p.E200K|ALCAM_uc003dvz.2_Missense_Mutation_p.E112K	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	478	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						CATTTCCCCTGAAGAGAATGT	0.348		NA											7	199					0	0	0	0
KIAA1524	57650	broad.mit.edu	37	3	108308177	108308177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:108308177G>C	uc003dxb.3	-	1	315	c.46C>G	c.(46-48)CAG>GAG	p.Q16E	DZIP3_uc003dxd.2_5'Flank|KIAA1524_uc010hpw.1_5'UTR|DZIP3_uc003dxe.1_5'Flank	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	16						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						GCTTTGTACTGACTGACAGTC	0.627		NA											3	49					0	0	0	0
POPDC2	64091	broad.mit.edu	37	3	119367224	119367224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:119367224G>C	uc003ecx.1	-	3	1026	c.892C>G	c.(892-894)CAG>GAG	p.Q298E	POPDC2_uc010hqw.1_Missense_Mutation_p.Q298E|POPDC2_uc003ecy.1_Missense_Mutation_p.Q116E	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	298						integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612		NA											11	94					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129290406	129290406	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129290406G>A	uc003emx.2	-	17	3382	c.3282C>T	c.(3280-3282)TTC>TTT	p.F1094F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1094	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GCACCATGTGGAAACGCTCAC	0.662		NA											17	82					0	0	0	0
TMCC1	23023	broad.mit.edu	37	3	129389275	129389276	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389275_129389276CG>AA	uc003emz.3	-	5	1909_1910	c.1408_1409CG>TT	c.(1408-1410)CGG>TTG	p.R470L	TMCC1_uc003emy.3_Missense_Mutation_p.R146L|TMCC1_uc011blc.1_Missense_Mutation_p.R291L|TMCC1_uc010htg.2_Missense_Mutation_p.R356L	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470	Potential.					integral to membrane				skin(1)	1						CTGGGTTTCCCGGATCTCCTGG	0.49		NA											29	140					0	0	0	0
CPNE4	131034	broad.mit.edu	37	3	131300471	131300471	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:131300471C>T	uc003eok.2	-	9	1254	c.819G>A	c.(817-819)AAG>AAA	p.K273K	CPNE4_uc011blq.1_Silent_p.K291K|CPNE4_uc003eol.2_Silent_p.K291K|CPNE4_uc003eom.2_Silent_p.K273K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	273										upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AATTCTTCTTCTTGGCTTTGT	0.448		NA											11	81					0	0	0	0
CLSTN2	64084	broad.mit.edu	37	3	140284985	140284985	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:140284985G>A	uc003etn.2	+	17	2948	c.2758G>A	c.(2758-2760)GAC>AAC	p.D920N		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	920	Glu-rich (highly acidic).|Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAGTGGCTCTGACGACAGCGA	0.572		NA								HNSCC(16;0.037)			22	13					0	0	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917778	145917778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:145917778G>A	uc010huy.2	-	6	775	c.446C>T	c.(445-447)TCA>TTA	p.S149L	PLSCR4_uc010huz.2_Missense_Mutation_p.S149L|PLSCR4_uc003evt.3_Missense_Mutation_p.S149L|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	149	Cytoplasmic (By similarity).			S -> L (in Ref. 6; AAP97186).	blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						CATCTGGTCTGAGTTGTTTTT	0.358		NA											11	50					0	0	0	0
IGSF10	285313	broad.mit.edu	37	3	151167020	151167020	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:151167020G>C	uc011bod.1	-	4	749	c.749C>G	c.(748-750)TCT>TGT	p.S250C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	250	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGCACTAGAGGGACTTCT	0.408		NA											15	109					0	0	0	0
GOLIM4	27333	broad.mit.edu	37	3	167742328	167742328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:167742328C>T	uc003ffe.2	-	14	2190	c.1846G>A	c.(1846-1848)GAG>AAG	p.E616K	GOLIM4_uc011bpe.1_Missense_Mutation_p.E617K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E589K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E588K	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	616	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TCTTCTGCCTCTTCCTGGTAC	0.443		NA											4	89					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	80					0	0	0	0
CHRD	8646	broad.mit.edu	37	3	184104641	184104641	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:184104641G>A	uc003fov.2	+	17	2451	c.2205G>A	c.(2203-2205)ACG>ACA	p.T735T	CHRD_uc003fow.2_Silent_p.T365T|CHRD_uc003fox.2_Silent_p.T735T|CHRD_uc003foy.2_Silent_p.T365T|CHRD_uc010hyc.2_Silent_p.T325T|CHRD_uc011brr.1_Silent_p.T277T	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	735	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGACGAACGGTGATCTGTG	0.657		NA											12	55					0	0	0	0
ACAP2	23527	broad.mit.edu	37	3	195028031	195028031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:195028031C>A	uc003fun.3	-	12	1172	c.931G>T	c.(931-933)GAA>TAA	p.E311*		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	311	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CTGAGGTCTTCAACTACCACA	0.368		NA											4	165					0.00909568	0.00942821	1	0
IQCG	84223	broad.mit.edu	37	3	197659136	197659136	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:197659136C>G	uc003fyo.2	-	5	699	c.553G>C	c.(553-555)GAG>CAG	p.E185Q	IQCG_uc003fyn.2_Missense_Mutation_p.E87Q|IQCG_uc003fyp.2_Missense_Mutation_p.E185Q|IQCG_uc003fyq.3_Missense_Mutation_p.E185Q	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	185											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTTGCAACTCCTTAATGGTA	0.368		NA											16	121					0	0	0	0
NHEDC1	150159	broad.mit.edu	37	4	103822391	103822391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:103822391G>C	uc003hww.2	-	12	1553	c.1431C>G	c.(1429-1431)ATC>ATG	p.I477M	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.I250M	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	477	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		CTGTGATCAAGATGGCTAAAA	0.458		NA											15	214					0	0	0	0
KIAA1109	84162	broad.mit.edu	37	4	123252691	123252691	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:123252691G>C	uc003ieh.2	+	65	11505	c.11460G>C	c.(11458-11460)TTG>TTC	p.L3820F	KIAA1109_uc003iem.2_Missense_Mutation_p.L211F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3820					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATATAAGTTTGAGAAGGTAAG	0.313		NA											4	26					0	0	0	0
NEK1	4750	broad.mit.edu	37	4	170400665	170400665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170400665C>G	uc003isb.1	-	22	2436	c.1944G>C	c.(1942-1944)AAG>AAC	p.K648N	NEK1_uc003isc.1_Missense_Mutation_p.K604N|NEK1_uc003isd.1_Missense_Mutation_p.K676N|NEK1_uc003ise.1_Missense_Mutation_p.K632N|NEK1_uc003isf.1_Missense_Mutation_p.K579N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	648					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATCAGAACTCTTAACTCCTT	0.348		NA											8	42					0	0	0	0
CLCN3	1182	broad.mit.edu	37	4	170628303	170628303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170628303G>A	uc003isi.2	+	11	2544	c.2035G>A	c.(2035-2037)GAT>AAT	p.D679N	CLCN3_uc003ish.2_Missense_Mutation_p.D679N|CLCN3_uc011cjz.1_Missense_Mutation_p.D662N|CLCN3_uc011cka.1_Missense_Mutation_p.D652N|CLCN3_uc003isj.1_Missense_Mutation_p.D652N	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	679	CBS 1.|Cytoplasmic (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACAGTGGATGATATAGAAAA	0.423		NA											27	92					0	0	0	0
RPL37	6167	broad.mit.edu	37	5	40834692	40834693	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834692_40834693GA>TT	uc003jme.1	-	2	119_120	c.19_20TC>AA	c.(19-21)TCG>AAG	p.S7K	SNORD72_uc003jmf.1_5'Flank	NM_000997	NP_000988	P61927	RL37_HUMAN	ribosomal protein L37	7					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome				0		Breast(839;0.238)				CTTTCCAAACGATGACGTTCCC	0.475		NA											19	23					0	0	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483990	64483990	+	Silent	SNP	T	T	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:64483990T>C	uc003jtp.2	-	22	3577	c.2763A>G	c.(2761-2763)ACA>ACG	p.T921T	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	921	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCACTGCCCTTGTGCGCATCC	0.517		NA											33	97					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82833070	82833070	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:82833070C>T	uc003kii.3	+	8	4604	c.4248C>T	c.(4246-4248)CTC>CTT	p.L1416L	VCAN_uc003kij.3_Silent_p.L429L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L80L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1416	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAGCATCTCGTTACCACTG	0.428		NA											17	27					0	0	0	0
HSPA9	3313	broad.mit.edu	37	5	137906699	137906699	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:137906699G>A	uc003ldf.2	-	4	468	c.360C>T	c.(358-360)ACC>ACT	p.T120T	HSPA9_uc011cyw.1_Silent_p.T51T	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	120					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGACGCTTGGTAGCATAAA	0.468		NA											24	68					0	0	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140779900	140779900	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140779900C>A	uc003lkf.1	+	1	2206	c.2206C>A	c.(2206-2208)CCC>ACC	p.P736T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P736T|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	736	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTGGTTCCCCCCAACTA	0.527		NA											43	167					6.58e-14	7.17e-14	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788504	140788504	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140788504C>T	uc003lkj.1	+	1	735	c.735C>T	c.(733-735)GAC>GAT	p.D245D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.D245D	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	245	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGAGACGAATATAGAA	0.502		NA											3	14					0	0	0	0
ZNF300	91975	broad.mit.edu	37	5	150277669	150277669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:150277669A>G	uc003lsy.1	-	5	487	c.220T>C	c.(220-222)TCA>CCA	p.S74P	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAATTTGATATGTCTCCC	0.378		NA											19	60					0	0	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812329	169812329	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:169812329G>A	uc003maq.1	-	2	523	c.123C>T	c.(121-123)CTC>CTT	p.L41L	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Silent_p.L41L	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	41	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TTTTCTGGTAGAGGGGCAGCA	0.597		NA											24	68					0	0	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557035	178557035	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:178557035G>A	uc003mjw.2	-	16	2355	c.2355C>T	c.(2353-2355)TCC>TCT	p.S785S		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	785	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAAGGTTTTGGAACTGGCAT	0.567		NA											15	38					0	0	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805967	27805968	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27805967_27805968AC>TA	uc003njs.2	-	1	150_151	c.150_151GT>TA	c.(148-153)GTGTAC>GTTAAC	p.Y51N	HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	51					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			upper_aerodigestive_tract(1)	1						GCCGCCAGGTACACCGGCGCTC	0.658		NA											7	52					0	0	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860925	27860925	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27860925C>T	uc003nkb.1	-	1	39	c.3G>A	c.(1-3)ATG>ATA	p.M1I	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	1					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.M1V(1)		ovary(2)	2						CACGTCCAGACATGGTAAAAC	0.577		NA											23	20					0	0	0	0
VARS	7407	broad.mit.edu	37	6	31749637	31749637	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:31749637G>A	uc003nxe.2	-	19	2757	c.2334C>T	c.(2332-2334)ATC>ATT	p.I778I	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	778					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GCTGGAGACTGATCTTGTCAG	0.622		NA											7	217					0	0	0	0
KIF6	221458	broad.mit.edu	37	6	39513400	39513400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:39513400C>T	uc003oot.2	-	11	1341	c.1246G>A	c.(1246-1248)GCG>ACG	p.A416T	KIF6_uc010jxa.1_Missense_Mutation_p.A207T|KIF6_uc011dua.1_Missense_Mutation_p.A416T|KIF6_uc010jxb.1_Missense_Mutation_p.A416T	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						CGCATATCCGCGCCAACCTCT	0.368		NA											33	52					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83818774	83818774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83818774G>A	uc003pjs.1	+	5	726	c.466G>A	c.(466-468)GAA>AAA	p.E156K	DOPEY1_uc011dyy.1_Missense_Mutation_p.E156K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E156K	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	156					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTGGCTTAGAAGAAGGATC	0.373		NA											23	73					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847361	83847361	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83847361C>T	uc003pjs.1	+	21	3860	c.3600C>T	c.(3598-3600)TCC>TCT	p.S1200S	DOPEY1_uc011dyy.1_Silent_p.S1191S|DOPEY1_uc010kbl.1_Silent_p.S1191S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGATGACTCCATTCAACAGA	0.413		NA											10	30					0	0	0	0
C6orf165	154313	broad.mit.edu	37	6	88173822	88173822	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:88173822C>G	uc003plv.2	+	13	1815	c.1723C>G	c.(1723-1725)CCA>GCA	p.P575A	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.P387A|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	575										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTGTACCCTCCAAAGGACAC	0.473		NA											9	30					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	93979222	93979222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:93979222C>T	uc003poe.2	-	7	1847	c.1606G>A	c.(1606-1608)GAG>AAG	p.E536K	EPHA7_uc003pof.2_Missense_Mutation_p.E536K|EPHA7_uc011eac.1_Missense_Mutation_p.E536K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	536	Extracellular (Potential).					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)		GTAGCTTCCTCTAGTGTAGCA	0.353		NA											14	62					0	0	0	0
AIM1	202	broad.mit.edu	37	6	106973169	106973169	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:106973169C>T	uc003prh.2	+	4	3583	c.3096C>T	c.(3094-3096)GTC>GTT	p.V1032V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1032	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACCCGACGTCTCTGAGAAGT	0.403		NA											31	145					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116937941	116937941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:116937941G>A	uc003pxe.2	+	1	300	c.155G>A	c.(154-156)GGA>GAA	p.G52E	RSPH4A_uc010kee.2_Missense_Mutation_p.G52E	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	52					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						CCAGAAACTGGACGCCAGTCC	0.612		NA							Kartagener_syndrome				5	27					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152510447	152510447	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152510447G>A	uc010kiw.2	-	128	23843	c.23241C>T	c.(23239-23241)ATC>ATT	p.I7747I	SYNE1_uc010kiv.2_Silent_p.I2271I|SYNE1_uc003qos.3_Silent_p.I2271I|SYNE1_uc003qot.3_Silent_p.I7676I|SYNE1_uc003qou.3_Silent_p.I7747I|SYNE1_uc003qoq.3_5'UTR|SYNE1_uc003qor.3_Silent_p.I647I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7747	Cytoplasmic (Potential).|Spectrin 26.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGAATGGAGATATCATCAG	0.433		NA								HNSCC(10;0.0054)			15	80					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152776622	152776622	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152776622C>T	uc010kiw.2	-	24	3433	c.2831G>A	c.(2830-2832)CGG>CAG	p.R944Q	SYNE1_uc003qot.3_Missense_Mutation_p.R951Q|SYNE1_uc003qou.3_Missense_Mutation_p.R944Q|SYNE1_uc010kjb.1_Missense_Mutation_p.R927Q|SYNE1_uc003qow.2_Missense_Mutation_p.R239Q|SYNE1_uc003qox.1_Missense_Mutation_p.R460Q|SYNE1_uc003qoz.2_Missense_Mutation_p.R376Q|SYNE1_uc003qoy.2_Missense_Mutation_p.R511Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	944	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGCAATCCGCAGTACCTT	0.507		NA								HNSCC(10;0.0054)			4	73					0	0	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944772	166944772	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:166944772G>A	uc003qvb.1	-	3	465	c.246C>T	c.(244-246)TCC>TCT	p.S82S	RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Silent_p.S90S|RPS6KA2_uc003qvd.1_Silent_p.S107S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	82	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCCAGCGTCGGACCCCTTCA	0.498		NA											23	66					0	0	0	0
ZNF12	7559	broad.mit.edu	37	7	6731675	6731675	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731675T>A	uc003sqt.1	-	5	1452	c.898A>T	c.(898-900)AAT>TAT	p.N300Y	ZNF12_uc011jxa.1_Missense_Mutation_p.N138Y|ZNF12_uc003sqs.1_Missense_Mutation_p.N262Y	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	300	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACACTGATTACATTCGTAA	0.423		NA											10	60					0	0	0	0
ZNF12	7559	broad.mit.edu	37	7	6731957	6731957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731957G>C	uc003sqt.1	-	5	1170	c.616C>G	c.(616-618)CTT>GTT	p.L206V	ZNF12_uc011jxa.1_Missense_Mutation_p.L44V|ZNF12_uc003sqs.1_Missense_Mutation_p.L168V	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	206					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCTGATAAAGACTTTCTTCA	0.328		NA											6	26					0	0	0	0
RFC2	5982	broad.mit.edu	37	7	73663387	73663387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:73663387G>A	uc003uaj.2	-	4	312	c.287C>T	c.(286-288)CCA>CTA	p.P96L	RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Missense_Mutation_p.P96L|RFC2_uc010lbp.2_Missense_Mutation_p.P59L|RFC2_uc003ual.2_5'UTR	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	96					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2						TTTGAGTGCTGGGCCCAGCAG	0.542		NA											25	106					0	0	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029401	83029401	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:83029401C>A	uc003uhy.1	-	11	1775	c.1309G>T	c.(1309-1311)GCA>TCA	p.A437S		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	437	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				CGATCTACTGCTATTTGTTTC	0.378		NA											26	123					1.77e-15	1.94e-15	1	0
TRRAP	8295	broad.mit.edu	37	7	98601841	98601841	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:98601841G>A	uc003upp.2	+	67	10505	c.10296G>A	c.(10294-10296)ATG>ATA	p.M3432I	TRRAP_uc011kis.1_Missense_Mutation_p.M3403I|TRRAP_uc003upr.2_Missense_Mutation_p.M3138I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3432					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGATCCATGAAGCTTCATA	0.378		NA											25	153					0	0	0	0
ZNF498	221785	broad.mit.edu	37	7	99219092	99219092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99219092G>A	uc003url.1	+	5	811	c.484G>A	c.(484-486)GAA>AAA	p.E162K	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.E162K|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GGTCAAGCCTGAATGGGGGAT	0.617		NA											17	100					0	0	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305456	99305456	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99305456G>A	uc003uru.2	-	12	1500	c.1395C>T	c.(1393-1395)TTC>TTT	p.F465F	ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACAAGGTTTGAAGGAGAAGT	0.353		NA											24	184					0	0	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463640	100463640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:100463640C>T	uc003uwp.2	+	14	2300	c.2158C>T	c.(2158-2160)CAG>TAG	p.Q720*	SLC12A9_uc011kki.1_Nonsense_Mutation_p.Q251*|SLC12A9_uc003uwr.2_Nonsense_Mutation_p.Q456*|SLC12A9_uc003uws.2_Nonsense_Mutation_p.Q251*|SLC12A9_uc003uwt.2_Nonsense_Mutation_p.Q456*|SLC12A9_uc003uwv.2_Nonsense_Mutation_p.Q251*|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	720	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACCTCTCAGCTGCACCA	0.692		NA											31	317					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111400292	111400292	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:111400292G>A	uc003vfx.2	-	39	4349	c.4080C>T	c.(4078-4080)ATC>ATT	p.I1360I	DOCK4_uc011kml.1_Silent_p.I241I|DOCK4_uc011kmm.1_Silent_p.I267I|DOCK4_uc003vfw.2_Silent_p.I810I|DOCK4_uc003vfy.2_Silent_p.I1405I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1360	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GCTGCATGGCGATGGCATGGG	0.547		NA											27	245					0	0	0	0
C7orf58	79974	broad.mit.edu	37	7	120629789	120629789	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:120629789G>C	uc003vjq.3	+	2	561	c.114G>C	c.(112-114)TCG>TCC	p.S38S	C7orf58_uc003vjr.1_Silent_p.S38S|C7orf58_uc003vjs.3_Silent_p.S38S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	38						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TCCGAGGGTCGAGGAAGCTCA	0.572		NA											12	63					0	0	0	0
KEL	3792	broad.mit.edu	37	7	142651327	142651327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:142651327C>T	uc003wcb.2	-	8	1078	c.868G>A	c.(868-870)GAG>AAG	p.E290K		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	290	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CGCCGCTGCTCCAGGGGCCTC	0.582		NA											4	30					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	151900145	151900145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:151900145C>T	uc003wla.2	-	26	4185	c.3966G>A	c.(3964-3966)TGG>TGA	p.W1322*	MLL3_uc003wkz.2_Nonsense_Mutation_p.W383*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1322					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTGCTCACTCCAGCCTGAAA	0.328		NA	N		medulloblastoma								5	17					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55537230	55537230	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:55537230T>A	uc003xsd.1	+	4	936	c.788T>A	c.(787-789)ATA>AAA	p.I263K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	263					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)			ATCTTTAAAGTAAGCACACAT	0.333		NA											20	55					0	0	0	0
PREX2	80243	broad.mit.edu	37	8	68992764	68992764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:68992764C>T	uc003xxv.1	+	16	1756	c.1729C>T	c.(1729-1731)CGA>TGA	p.R577*	PREX2_uc003xxu.1_Nonsense_Mutation_p.R577*|PREX2_uc011lez.1_Nonsense_Mutation_p.R512*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TATGAAACATCGACTTATGAA	0.313		NA											3	53					0	0	0	0
KCNB2	9312	broad.mit.edu	37	8	73849010	73849010	+	Missense_Mutation	SNP	G	G	A	rs140088625		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:73849010G>A	uc003xzb.2	+	3	2008	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	474	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E474K(1)		skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAAGGCCGGAGAGTCCGCCAA	0.532		NA											18	110					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113326672	113326672	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:113326672A>C	uc003ynu.2	-	48	7694	c.7535T>G	c.(7534-7536)CTT>CGT	p.L2512R	CSMD3_uc003yns.2_Missense_Mutation_p.L1714R|CSMD3_uc003ynt.2_Missense_Mutation_p.L2472R|CSMD3_uc011lhx.1_Missense_Mutation_p.L2408R|CSMD3_uc003ynw.1_Missense_Mutation_p.L223R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2512	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane		p.L2512H(1)		ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATACACCTGAAGAACATCAAA	0.323		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	53					0	0	0	0
RAD21	5885	broad.mit.edu	37	8	117868438	117868438	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:117868438C>T	uc003yod.2	-	8	1192	c.904G>A	c.(904-906)GAA>AAA	p.E302K		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	302	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCAAATGCTTCTTCCTCATTT	0.398		NA											14	108					0	0	0	0
PTK2	5747	broad.mit.edu	37	8	141900645	141900645	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:141900645G>C	uc003yvu.2	-	3	422	c.192C>G	c.(190-192)GTC>GTG	p.V64V	PTK2_uc003yvs.2_Silent_p.V64V|PTK2_uc003yvt.2_Silent_p.V86V|PTK2_uc003yvv.2_Nonsense_Mutation_p.S7*|PTK2_uc011ljr.1_Silent_p.V64V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	64	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACTTACCCTGACATCAGTAG	0.343		NA											12	69					0	0	0	0
ACER2	340485	broad.mit.edu	37	9	19435048	19435048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:19435048C>T	uc003zny.1	+	4	627	c.469C>T	c.(469-471)CCT>TCT	p.P157S	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.P108S	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	157	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						CCTGGGAGTTCCTTGCACTGC	0.552		NA											16	48					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:21971096C>A	uc003zpk.2	-	2	474	c.262G>T	c.(262-264)GAG>TAG	p.E88*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G143V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	88	ANK 3.		E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E88*(13)|p.E88E(6)|p.E88K(3)|p.H83fs*2(2)|p.E88D(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.E87K(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	9					1.58e-08	1.7e-08	1	0
RUSC2	9853	broad.mit.edu	37	9	35558285	35558285	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:35558285G>A	uc003zww.2	+	7	3407	c.3152G>A	c.(3151-3153)GGG>GAG	p.G1051E	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1051E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1051	RUN.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGGATGGGCTCAAGGCC	0.582		NA											8	58					0	0	0	0
FBXO10	26267	broad.mit.edu	37	9	37512661	37512661	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:37512661G>C	uc004aab.2	-	11	2803	c.2754C>G	c.(2752-2754)CTC>CTG	p.L918L	FBXO10_uc004aac.2_Silent_p.L934L|FBXO10_uc004aad.2_Silent_p.L468L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	918						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		AGGGACGTCTGAGAGAATTTT	0.582		NA											18	54					0	0	0	0
SHB	6461	broad.mit.edu	37	9	38016078	38016078	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:38016078G>C	uc004aax.2	-	2	1336	c.768C>G	c.(766-768)CTC>CTG	p.L256L		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	256	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTTTGCTCTTGAGATCATTCT	0.522		NA											6	83					0	0	0	0
FAM108B1	51104	broad.mit.edu	37	9	74481894	74481894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:74481894G>A	uc004aim.1	-	4	1278	c.676C>T	c.(676-678)CCA>TCA	p.P226S	FAM108B1_uc004ail.2_Missense_Mutation_p.P226S	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	226						extracellular region	hydrolase activity				0						ATTAATACTGGAGAGGTTATC	0.393		NA											8	39					0	0	0	0
NXNL2	158046	broad.mit.edu	37	9	91150602	91150602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:91150602G>A	uc011ltj.1	+	1	587	c.253G>A	c.(253-255)GAG>AAG	p.E85K	NXNL2_uc004aqa.2_Missense_Mutation_p.E85K	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	85	Thioredoxin.										0						CTTCATGCGCGAGCTGCATGG	0.617		NA											3	37					0	0	0	0
XPA	7507	broad.mit.edu	37	9	100459507	100459507	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:100459507G>A	uc004axr.3	-	1	185	c.68C>T	c.(67-69)TCG>TTG	p.S23L	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	23	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				CGCCCGCACCGAGGCAGGCAG	0.731		NA	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				6	26					0	0	0	0
ZNF189	7743	broad.mit.edu	37	9	104170889	104170889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:104170889G>A	uc004bbh.1	+	3	1115	c.839G>A	c.(838-840)AGA>AAA	p.R280K	ZNF189_uc004bbg.1_Missense_Mutation_p.R238K|ZNF189_uc004bbi.1_Missense_Mutation_p.R266K|ZNF189_uc011lvk.1_Missense_Mutation_p.R265K	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	280	C2H2-type 5.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				GAGCATCAAAGAACTCACACT	0.393		NA											27	226					0	0	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019928	131019928	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:131019928C>T	uc011maw.1	-	24	2602	c.2589G>A	c.(2587-2589)GAG>GAA	p.E863E	GOLGA2_uc010mxw.2_Silent_p.E186E|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	863	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACTCCTCCTTCTCCCGGTGCC	0.622		NA											26	102					0	0	0	0
SETX	23064	broad.mit.edu	37	9	135163631	135163631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:135163631C>T	uc004cbk.2	-	17	6499	c.6316G>A	c.(6316-6318)GAA>AAA	p.E2106K	SETX_uc004cbj.2_Missense_Mutation_p.E1725K|SETX_uc010mzt.2_Missense_Mutation_p.E1725K	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2106	Potential.				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTATTTCCCGTCCACCT	0.338		NA											10	22					0	0	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412249	23412249	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:23412249G>A	uc004dal.3	+	3	2622	c.2614G>A	c.(2614-2616)GAA>AAA	p.E872K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	872					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TGAGTGTGTAGAAATGGTAGA	0.398		NA											37	27					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873419	91873419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:91873419C>T	uc004efk.1	+	7	4369	c.3524C>T	c.(3523-3525)CCA>CTA	p.P1175L	PCDH11X_uc004efl.1_Missense_Mutation_p.P1165L|PCDH11X_uc004efo.1_Missense_Mutation_p.P1138L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1167L|PCDH11X_uc004efn.1_Missense_Mutation_p.P1157L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1175	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGCCACAGCCCACCACTGTCA	0.567		NA											16	43					0	0	0	0
COL4A5	1287	broad.mit.edu	37	X	107834353	107834353	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:107834353G>A	uc004enz.1	+	20	1433	c.1231G>A	c.(1231-1233)GAA>AAA	p.E411K	COL4A5_uc011mso.1_Missense_Mutation_p.E411K|COL4A5_uc004eob.1_Missense_Mutation_p.E19K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	411	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GAAAGGTGATGAAGGACCACC	0.547		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				30	61					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123775674	123775674	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775674C>T	uc004euj.2	-	11	2108	c.2044G>A	c.(2044-2046)GAT>AAT	p.D682N	ODZ1_uc011muj.1_Missense_Mutation_p.D681N|ODZ1_uc010nqy.2_Missense_Mutation_p.D682N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	682	EGF-like 5.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CACTTGGGATCACAGCTGCAT	0.473		NA											24	90					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123775763	123775763	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775763C>A	uc004euj.2	-	11	2019	c.1955G>T	c.(1954-1956)GGA>GTA	p.G652V	ODZ1_uc011muj.1_Missense_Mutation_p.G651V|ODZ1_uc010nqy.2_Missense_Mutation_p.G652V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	652	EGF-like 4.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						ACAGTTAACTCCTCCCCAGCC	0.498		NA											48	163					3.77e-18	4.14e-18	1	0
ZIC3	7547	broad.mit.edu	37	X	136652134	136652134	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:136652134A>C	uc004fak.2	+	3	1814	c.1309A>C	c.(1309-1311)AAC>CAC	p.N437H		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	437					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGCTTCTGCAAACAGTAAAGA	0.453		NA											31	109					0	0	0	0
GAB3	139716	broad.mit.edu	37	X	153944337	153944337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:153944337G>T	uc004fmj.1	-	2	388	c.340C>A	c.(340-342)CAG>AAG	p.Q114K	GAB3_uc004fmk.1_Missense_Mutation_p.Q114K|GAB3_uc010nve.1_Missense_Mutation_p.Q114K|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	114	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCAGACCTGACTGATGCTG	0.522		NA											106	50					9.94e-53	1.1e-52	1	0
COL17A1	1308	broad.mit.edu	37	10	105819448	105819448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:105819448delT	uc001kxr.2	-	15	1339	c.1170delA	c.(1168-1170)AAAfs	p.K390fs	COL17A1_uc010qqv.1_Frame_Shift_Del_p.K374fs	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	390	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTGCTTTTCTTTTTTTAGGG	0.443		NA											51	73	---	---	---	---	NA	NA	NA	NA
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:56099187delT	uc010gix.1	-	1	737	c.75delA	c.(73-75)AAAfs	p.K25fs	CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502		NA											7	445	---	---	---	---	NA	NA	NA	NA