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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
UBR4	23352	broad.mit.edu	37	1	19487443	19487443	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19487443C>T	uc001bbi.2	-	38	5378	c.5374G>A	c.(5374-5376)GTA>ATA	p.V1792I	UBR4_uc001bbm.1_Missense_Mutation_p.V1003I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1792					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCCTCTACTGTGCGGCAG	0.542		NaN											0	0	0	0.001984	0	7	46				
MRTO4	51154	broad.mit.edu	37	1	19584362	19584362	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19584362G>C	uc001bbs.2	+	6	632	c.377G>C	c.(376-378)CGA>CCA	p.R126P		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	126					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTACGCCCGAGCTGGTAAC	0.592		NaN											0	0	0	0.014323	0	23	123				
TAF12	6883	broad.mit.edu	37	1	28931969	28931969	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:28931969C>T	uc001bqw.2	-	4	458	c.365G>A	c.(364-366)CGC>CAC	p.R122H	TAF12_uc001bqx.2_Missense_Mutation_p.R122H|TAF12_uc001bqy.2_Missense_Mutation_p.R122H|TAF12_uc009vti.2_Missense_Mutation_p.R122H	NM_005644	NP_005635	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding	122					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCACTGGCGCTCTGCAAG	0.512		NaN											0	0	0	0.020292	0	14	80				
DMRTA2	63950	broad.mit.edu	37	1	50884577	50884577	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:50884577G>A	uc010ona.1	-	2	1485	c.1389C>T	c.(1387-1389)CTC>CTT	p.L463L	DMRTA2_uc010onb.1_Silent_p.L463L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	463	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCAGGGGGCTGAGGCCGAGCG	0.756		NaN											0	0	0	0.021553	0	6	6				
LPPR4	9890	broad.mit.edu	37	1	99771657	99771657	+	Silent	SNP	C	C	T	rs35971915		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:99771657C>T	uc001dse.2	+	7	1489	c.1383C>T	c.(1381-1383)TCC>TCT	p.S461S	LPPR4_uc010oue.1_Silent_p.S403S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	461							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAGTTGTCCTTGCAAGTTA	0.502		NaN											0	0	0	0.023175	0	39	94				
OLFM3	118427	broad.mit.edu	37	1	102312479	102312479	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:102312479C>G	uc001duf.2	-	1	122	c.51G>C	c.(49-51)ATG>ATC	p.M17I	OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	17						extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTTGAGATCATTGCCATGG	0.507		NaN											0	0	0	0.014323	0	24	91				
FAM40A	85369	broad.mit.edu	37	1	110581817	110581817	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:110581817C>T	uc001dza.1	+	4	368	c.349C>T	c.(349-351)CTG>TTG	p.L117L	FAM40A_uc001dyz.1_Silent_p.L22L|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	117						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GTGGACTGAGCTGGATACCAA	0.517		NaN											0	0	0	0.013537	0	13	46				
TXNIP	10628	broad.mit.edu	37	1	145438895	145438895	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145438895G>C	uc001enn.3	+	1	434	c.93G>C	c.(91-93)GTG>GTC	p.V31V	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	31					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGCCGGGTGATAGTGGAGG	0.517		NaN											0	0	0	0.001984	0	7	91				
TXNIP	10628	broad.mit.edu	37	1	145439609	145439609	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145439609G>C	uc001enn.3	+	2	608	c.267G>C	c.(265-267)GTG>GTC	p.V89V	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V34V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	89					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGATGGTGATCATGAGAC	0.403		NaN											0	0	0	0.007413	0	17	131				
TXNIP	10628	broad.mit.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145440274G>A	uc001enn.3	+	5	921	c.580G>A	c.(580-582)GAG>AAG	p.E194K	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E139K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478		NaN											0	0	0	0.012319	0	21	149		Valid		
PIAS3	10401	broad.mit.edu	37	1	145584822	145584822	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145584822C>A	uc001eoc.1	+	13	1697	c.1606C>A	c.(1606-1608)CAG>AAG	p.Q536K	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.Q205K	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	536					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCATTTCTTCAGACAGAGAG	0.423		NaN											1	0	7.11191e-15	0.013726	7.61477e-15	30	76				
SETDB1	9869	broad.mit.edu	37	1	150923371	150923371	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:150923371A>G	uc001evu.2	+	13	2208	c.2018A>G	c.(2017-2019)TAT>TGT	p.Y673C	SETDB1_uc009wmf.2_Missense_Mutation_p.Y674C|SETDB1_uc001evv.2_Missense_Mutation_p.Y673C|SETDB1_uc009wmg.1_Missense_Mutation_p.Y673C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAGCCCTATAAGCCTTTT	0.463		NaN											0	0	0	0.012213	0	35	83				
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:151108092C>G	uc001ewu.2	-	14	1708	c.1408G>C	c.(1408-1410)GAG>CAG	p.E470Q	SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	470	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602		NaN											0	0	0	0.01441	0	67	122				
NUP210L	91181	broad.mit.edu	37	1	154112367	154112367	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:154112367C>G	uc001fdw.2	-	5	700	c.628G>C	c.(628-630)GAG>CAG	p.E210Q	NUP210L_uc010peh.1_Missense_Mutation_p.E210Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	210						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTTTCTCCTCTTTTTCCATC	0.338		NaN											0	0	0	0.01441	0	105	243				
FMOD	2331	broad.mit.edu	37	1	203316731	203316731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:203316731C>T	uc001gzr.2	-	2	804	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	223					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCAGTGACCGGAGGCCCCT	0.567		NaN											0	0	0	0.01441	0	72	189				
PTPN14	5784	broad.mit.edu	37	1	214567095	214567095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:214567095A>C	uc001hkk.1	-	10	1143	c.872T>G	c.(871-873)ATT>AGT	p.I291S	PTPN14_uc010pty.1_Missense_Mutation_p.I192S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	291	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAACCGAGAAATATACTTGGC	0.343		NaN											0	0	0	0.021523	0	20	67				
JMJD4	65094	broad.mit.edu	37	1	227921241	227921241	+	Silent	SNP	G	G	A	rs117793265	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:227921241G>A	uc001hrb.2	-	4	834	c.834C>T	c.(832-834)TCC>TCT	p.S278S	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.S278S	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	278	JmjC.										0		Prostate(94;0.0885)				AGAGTGCTGGGGAGGTCACGT	0.642		NaN											0	0	0	0.012319	0	21	61				
OBSCN	84033	broad.mit.edu	37	1	228473945	228473945	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:228473945C>T	uc009xez.1	+	34	9215	c.9171C>T	c.(9169-9171)CCC>CCT	p.P3057P	OBSCN_uc001hsn.2_Silent_p.P3057P|OBSCN_uc001hsq.1_Silent_p.P313P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3057	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATGCCCAGCCCGGGGGCTACC	0.667		NaN											0	0	0	0.021553	0	6	26				
GPR158	57512	broad.mit.edu	37	10	25885648	25885648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:25885648C>G	uc001isj.2	+	10	2135	c.2075C>G	c.(2074-2076)TCT>TGT	p.S692C	GPR158_uc001isk.2_Missense_Mutation_p.S67C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	692	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGGGCCGATCTGGATCCTAC	0.443		NaN											0	0	0	0.020292	0	14	42				
MKX	283078	broad.mit.edu	37	10	28032225	28032225	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:28032225G>A	uc001ity.3	-	2	345	c.120C>T	c.(118-120)CGC>CGT	p.R40R	MKX_uc001itx.3_Silent_p.R40R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	40					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCACCTCGGGGCGGGCGTGAG	0.726		NaN											0	0	0	0.008291	0	10	33				
HKDC1	80201	broad.mit.edu	37	10	71002944	71002944	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:71002944G>A	uc001jpf.3	+	7	831	c.698G>A	c.(697-699)GGC>GAC	p.G233D	HKDC1_uc010qje.1_Missense_Mutation_p.G96D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	233					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TCAGGAACTGGCACCAATGCG	0.562		NaN											0	0	0	0.014323	0	21	114				
PRF1	5551	broad.mit.edu	37	10	72358594	72358594	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:72358594T>C	uc009xqg.2	-	3	1044	c.883A>G	c.(883-885)ACC>GCC	p.T295A	PRF1_uc001jrf.3_Missense_Mutation_p.T295A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	295	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCCGGTAGGTTTGGTGGAAG	0.607		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.021523	0	27	73				
TACC2	10579	broad.mit.edu	37	10	123846852	123846852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:123846852G>T	uc001lfv.2	+	4	5197	c.4837G>T	c.(4837-4839)GAT>TAT	p.D1613Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D1613Y|TACC2_uc010qtv.1_Missense_Mutation_p.D1613Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1613						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACATGGAGAAGATGGTCCCGG	0.582		NaN											1	0	4.35082e-09	0.010504	4.52144e-09	22	69				
MRPL23	6150	broad.mit.edu	37	11	1977518	1977518	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:1977518G>A	uc001lux.2	+	5	421	c.330G>A	c.(328-330)CTG>CTA	p.L110L		NM_021134	NP_066957	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	110					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|ovary(1)	3		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCCAGATCTGTTTCCCGAGA	0.622		NaN											0	0	0	0.01892	0	24	167				
TRIM5	85363	broad.mit.edu	37	11	5686559	5686559	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:5686559C>T	uc001mbm.1	-	8	1219	c.962G>A	c.(961-963)AGC>AAC	p.S321N	TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	321	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCGGAGAGCTCACTTGTCT	0.408		NaN											0	0	0	0.020292	0	13	69				
STK33	65975	broad.mit.edu	37	11	8483449	8483449	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:8483449C>A	uc001mgi.1	-	4	1380	c.461G>T	c.(460-462)AGC>ATC	p.S154I	STK33_uc001mgj.1_Missense_Mutation_p.S154I|STK33_uc001mgk.1_Missense_Mutation_p.S154I|STK33_uc010rbn.1_Missense_Mutation_p.S113I|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	154	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CACAGCAGAGCTTCCAGCCTT	0.338		NaN											1	0	4.84862e-15	0.010729	5.2178e-15	11	39				
AMPD3	272	broad.mit.edu	37	11	10514903	10514903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:10514903C>T	uc001mio.1	+	7	1282	c.947C>T	c.(946-948)ACA>ATA	p.T316I	AMPD3_uc010rbz.1_Missense_Mutation_p.T157I|AMPD3_uc001min.1_Missense_Mutation_p.T325I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T323I|AMPD3_uc009yfy.2_Missense_Mutation_p.T316I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	316					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGTGGACACACACATCCAT	0.577		NaN											0	0	0	0.009718	0	44	160				
PAMR1	25891	broad.mit.edu	37	11	35454248	35454248	+	Missense_Mutation	SNP	C	C	T	rs148541461		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:35454248C>T	uc001mwg.2	-	11	1862	c.1819G>A	c.(1819-1821)GTG>ATG	p.V607M	PAMR1_uc001mwf.2_Missense_Mutation_p.V624M|PAMR1_uc010rew.1_Missense_Mutation_p.V496M|PAMR1_uc010rex.1_Missense_Mutation_p.V567M	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	607	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGGCTCCTCACGTCTGCCAGG	0.617		NaN											0	0	0	0.008291	0	10	56				
SPRYD5	84767	broad.mit.edu	37	11	55653304	55653304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:55653304G>T	uc010rip.1	+	2	492	c.400G>T	c.(400-402)GAG>TAG	p.E134*	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	134						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GTGGGCTGCTGAGGAACGCCG	0.478		NaN											1	0	2.0095e-06	0.001984	2.06803e-06	7	36				
C11orf80	79703	broad.mit.edu	37	11	66605889	66605889	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:66605889G>A	uc001ojf.2	+	15	1727	c.1720G>A	c.(1720-1722)GAT>AAT	p.D574N	C11orf80_uc001ojg.2_Missense_Mutation_p.D341N|C11orf80_uc001ojh.2_Missense_Mutation_p.D342N|C11orf80_uc001oji.2_Missense_Mutation_p.D342N|C11orf80_uc010rpl.1_Missense_Mutation_p.D208N|C11orf80_uc001ojj.2_Missense_Mutation_p.D172N	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	419											0						GGACGCACCTGATAACAGCAG	0.443		NaN											0	0	0	0.008291	0	11	58				
ACY3	91703	broad.mit.edu	37	11	67414351	67414351	+	Missense_Mutation	SNP	G	G	C	rs145934175		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:67414351G>C	uc001omq.2	-	3	335	c.164C>G	c.(163-165)CCG>CGG	p.P55R		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	55					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TGTGGCTGCCGGGTTGGCCAG	0.662		NaN											0	0	0	0.004482	0	8	24				
ODZ4	26011	broad.mit.edu	37	11	78399233	78399233	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:78399233G>T	uc001ozl.3	-	29	5589	c.5126C>A	c.(5125-5127)CCT>CAT	p.P1709H	ODZ4_uc009yvb.1_Missense_Mutation_p.P293H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1709	YD 4.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CTGGCCAGTAGGGAAGGTCAC	0.507		NaN											1	0	2.81731e-10	0.010818	2.9715e-10	31	182				
SIK2	23235	broad.mit.edu	37	11	111558772	111558772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:111558772A>T	uc001plt.2	+	4	482	c.364A>T	c.(364-366)AAA>TAA	p.K122*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	122	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						AGCCAGGCGAAAATTCTGGCA	0.403		NaN											0	0	0	0.020292	0	13	56				
MLL	4297	broad.mit.edu	37	11	118382708	118382708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:118382708C>G	uc001pta.2	+	31	11128	c.11105C>G	c.(11104-11106)TCA>TGA	p.S3702*	MLL_uc001ptb.2_Nonsense_Mutation_p.S3705*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3702	FYR C-terminal.				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)		GAAGCTCGATCAAATGCCCGC	0.428		NaN	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								0	0	0	0.001984	0	7	38		Valid		
OR8D1	283159	broad.mit.edu	37	11	124179947	124179947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124179947C>T	uc010sag.1	-	1	716	c.716G>A	c.(715-717)GGA>GAA	p.G239E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTGCATGTTCCAAAAGCTTT	0.517		NaN											0	0	0	0.028581	0	17	57				
OR8B2	26595	broad.mit.edu	37	11	124252654	124252654	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124252654C>T	uc010sai.1	-	1	586	c.586G>A	c.(586-588)GAG>AAG	p.E196K		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAACCACCTCGTTGACATAG	0.433		NaN											0	0	0	0.007413	0	18	83				
ARHGAP32	9743	broad.mit.edu	37	11	128840032	128840032	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:128840032C>T	uc009zcp.2	-	22	5034	c.5034G>A	c.(5032-5034)TTG>TTA	p.L1678L	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.L637L|ARHGAP32_uc001qez.2_Silent_p.L1329L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1678	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAAGGGGTCTCAACTGGACTG	0.512		NaN											0	0	0	0.014323	0	23	103				
CD69	969	broad.mit.edu	37	12	9913402	9913402	+	Silent	SNP	A	A	G	rs149884332	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:9913402A>G	uc001qwk.2	-	1	96	c.15T>C	c.(13-15)AAT>AAC	p.N5N	CD69_uc010sgu.1_Silent_p.N5N|CD69_uc010sgv.1_Silent_p.N5N	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	5	Cytoplasmic (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						CTACGAAACAATTTTCAGAGC	0.408		NaN											0	0	0	0.024245	0	14	88				
CPNE8	144402	broad.mit.edu	37	12	39047685	39047685	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:39047685C>T	uc001rls.1	-	20	1778	c.1694G>A	c.(1693-1695)TGA>TAA	p.*565*	CPNE8_uc001rlr.1_Silent_p.*224*	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	565										pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAGCACAGTCATATTTGAGT	0.458		NaN											0	0	0	0.001984	0	7	30				
ARID2	196528	broad.mit.edu	37	12	46125015	46125015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:46125015C>T	uc001ros.1	+	3	202	c.202C>T	c.(202-204)CAG>TAG	p.Q68*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q68*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	68	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGAAGAATCAGTGGGGAGA	0.378		NaN											0	0	0	0.028581	0	16	64		Valid		
H1FNT	341567	broad.mit.edu	37	12	48723522	48723522	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:48723522G>A	uc001rrm.2	+	1	760	c.448G>A	c.(448-450)GCG>ACG	p.A150T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						GACCCCAGCCGCGCCCCGGAG	0.706		NaN											0	0	0	0.001984	0	7	24				
MLL2	8085	broad.mit.edu	37	12	49444142	49444142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:49444142T>A	uc001rta.3	-	11	3229	c.3229A>T	c.(3229-3231)AAA>TAA	p.K1077*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1077	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTGAAACTTTCTCAGTCTCC	0.617		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.014758	0	5	24				
SILV	6490	broad.mit.edu	37	12	56349288	56349288	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56349288G>C	uc001sip.2	-	9	1753	c.1722C>G	c.(1720-1722)ACC>ACG	p.T574T	SILV_uc001siq.2_Silent_p.T574T|SILV_uc010spx.1_Silent_p.T488T|SILV_uc001sir.2_Silent_p.T574T	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	574	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CCAGGCTGTTGGTATCAGCCA	0.582		NaN											0	0	0	0.024245	0	16	73				
ANKRD52	283373	broad.mit.edu	37	12	56647181	56647181	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56647181C>T	uc001skm.3	-	10	1081	c.991G>A	c.(991-993)GAG>AAG	p.E331K		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	331	ANK 10.						protein binding			ovary(2)	2						CAATCAATCTCGCTGCCTGTG	0.532		NaN											0	0	0	0.006122	0	17	72				
BEST3	144453	broad.mit.edu	37	12	70070717	70070717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:70070717G>A	uc001svg.2	-	7	1073	c.846C>T	c.(844-846)TTC>TTT	p.F282F	BEST3_uc001svd.1_Silent_p.F282F|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.F176F|BEST3_uc001svh.2_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	282	Helical; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCATAGAAGAAGAATTGTA	0.473		NaN											0	0	0	0.00632	0	28	147				
NDUFA12	55967	broad.mit.edu	37	12	95397387	95397387	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:95397387G>T	uc001tdl.2	-	1	125	c.70C>A	c.(70-72)CTA>ATA	p.L24I		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	13kDa differentiation-associated protein	24					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	AAAACCCGTAGATAGCCTCGG	0.637		NaN											1	0	5.91797e-21	0.012213	6.43389e-21	30	168				
C12orf63	374467	broad.mit.edu	37	12	97159026	97159026	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:97159026A>G	uc001tet.1	+	27	3664	c.3586A>G	c.(3586-3588)AAA>GAA	p.K1196E		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1196										skin(6)|ovary(1)	7						TATTATGCAAAAAAACTGATA	0.343		NaN											0	0	0	0.014758	0	5	27				
ANO4	121601	broad.mit.edu	37	12	101333128	101333128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:101333128G>A	uc010svm.1	+	4	768	c.196G>A	c.(196-198)GAA>AAA	p.E66K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.E31K|ANO4_uc001thx.2_Missense_Mutation_p.E66K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	66	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TGATGAATTAGAAGCTGTCAG	0.413		NaN								HNSCC(74;0.22)			0	0	0	0.024334	0	26	74				
DTX1	1840	broad.mit.edu	37	12	113532886	113532886	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:113532886G>A	uc001tuk.1	+	7	1762	c.1426G>A	c.(1426-1428)GGG>AGG	p.G476R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	476					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGCCATCTACGGGGAGAAGAC	0.652		NaN											0	0	0	0.016723	0	14	82				
LRRC43	254050	broad.mit.edu	37	12	122670812	122670812	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:122670812G>A	uc009zxm.2	+	3	512	c.487G>A	c.(487-489)GAG>AAG	p.E163K	LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	163	LRR 1.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGAATCAAGGAGGTGGATGC	0.562		NaN											0	0	0	0.004672	0	3	11				
POU4F1	5457	broad.mit.edu	37	13	79176005	79176005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:79176005C>G	uc001vkv.2	-	2	1039	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	269	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGAACGCCTCGAGCTCGCGC	0.587		NaN											0	0	0	0.014758	0	5	23				
RAB20	55647	broad.mit.edu	37	13	111176499	111176499	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:111176499G>A	uc001vqy.2	-	2	423	c.218C>T	c.(217-219)GCG>GTG	p.A73V		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607		NaN											0	0	0	0.008361	0	29	81				
NDRG2	57447	broad.mit.edu	37	14	21486650	21486650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:21486650G>C	uc001vyy.2	-	14	977	c.827C>G	c.(826-828)TCA>TGA	p.S276*	NDRG2_uc010tll.1_Nonsense_Mutation_p.S272*|NDRG2_uc001vyt.2_Nonsense_Mutation_p.S189*|NDRG2_uc001vyu.2_Nonsense_Mutation_p.S233*|NDRG2_uc001vyv.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyw.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzb.2_Nonsense_Mutation_p.S216*|NDRG2_uc001vyx.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vza.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyz.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzd.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzg.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzf.2_Nonsense_Mutation_p.S262*|NDRG2_uc010aig.2_Nonsense_Mutation_p.S265*	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	276					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GTCCAGTTTTGAGTTACATTC	0.577		NaN											0	0	0	0.00308	0	8	31				
RIPK3	11035	broad.mit.edu	37	14	24808466	24808466	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:24808466C>G	uc001wpb.2	-	3	436	c.226G>C	c.(226-228)GAA>CAA	p.E76Q	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.E76Q	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	76	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		ATAACCCCTTCTAGGCGCAGC	0.572		NaN											0	0	0	0.016522	0	22	91				
ZFYVE26	23503	broad.mit.edu	37	14	68228128	68228128	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:68228128C>T	uc001xka.2	-	35	6682	c.6543G>A	c.(6541-6543)GTG>GTA	p.V2181V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.V27V|ZFYVE26_uc001xkc.3_Silent_p.V2181V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2181					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTGTGCCTCACGTAGAAGC	0.517		NaN											0	0	0	0.021553	0	6	24				
NUMB	8650	broad.mit.edu	37	14	73753886	73753886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:73753886C>G	uc001xny.1	-	9	907	c.587G>C	c.(586-588)CGT>CCT	p.R196P	NUMB_uc010aro.1_Missense_Mutation_p.R196P|NUMB_uc010arp.1_Missense_Mutation_p.R185P|NUMB_uc010arq.1_Missense_Mutation_p.R196P|NUMB_uc010arr.1_Missense_Mutation_p.R185P|NUMB_uc001xoa.1_Missense_Mutation_p.R196P|NUMB_uc001xnz.1_Missense_Mutation_p.R185P|NUMB_uc001xob.1_Missense_Mutation_p.R185P|NUMB_uc001xod.1_Missense_Mutation_p.R196P|NUMB_uc001xoc.1_Missense_Mutation_p.R196P|NUMB_uc010ars.1_Missense_Mutation_p.R185P|NUMB_uc001xof.1_Missense_Mutation_p.R160P|NUMB_uc001xog.2_Missense_Mutation_p.R185P|NUMB_uc001xoh.1_Missense_Mutation_p.R185P|NUMB_uc010ttz.1_5'Flank	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	196					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGTTGTGACACGGAATGATCC	0.448		NaN											0	0	0	0.028581	0	14	83				
BAG5	9529	broad.mit.edu	37	14	104027261	104027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:104027261C>G	uc001yni.1	-	2	475	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E122Q|BAG5_uc001ynj.1_Missense_Mutation_p.E81Q|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	81	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCTCCAACTCTTTGAGAAGA	0.428		NaN											0	0	0	0.008361	0	24	109				
PLCB2	5330	broad.mit.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:40594185G>C	uc001zld.2	-	7	856	c.555C>G	c.(553-555)CTC>CTG	p.L185L	PLCB2_uc010bbo.2_Silent_p.L185L|PLCB2_uc010ucm.1_Silent_p.L185L|PLCB2_uc001zle.3_Silent_p.L185L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567		NaN											0	0	0	0.020292	0	15	62				
INO80	54617	broad.mit.edu	37	15	41388442	41388442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:41388442G>A	uc001zni.2	-	2	280	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCCAAGTACTGAAGATAGAGG	0.483		NaN											0	0	0	0.021553	0	5	51				
TLN2	83660	broad.mit.edu	37	15	62993399	62993399	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:62993399T>G	uc002alb.3	+	14	1682	c.1682T>G	c.(1681-1683)GTT>GGT	p.V561G		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	561					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCTTCAGTTGTTAACCTCACA	0.403		NaN											0	0	0	0.014758	0	5	43				
MYO9A	4649	broad.mit.edu	37	15	72186022	72186022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72186022C>G	uc002atl.3	-	26	5613	c.5140G>C	c.(5140-5142)GAG>CAG	p.E1714Q	MYO9A_uc002atn.1_Missense_Mutation_p.E1695Q|MYO9A_uc002atk.2_Missense_Mutation_p.E438Q|MYO9A_uc002atm.1_Missense_Mutation_p.E438Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1714	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AAACTTACCTCTCTTTGGCCT	0.368		NaN											0	0	0	0.001984	0	7	34				
SENP8	123228	broad.mit.edu	37	15	72432366	72432366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72432366G>C	uc002atp.2	+	2	501	c.402G>C	c.(400-402)GAG>GAC	p.E134D		NM_145204	NP_660205	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	134	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2						AGGTAGCAGAGAAACTGGAGG	0.453		NaN											0	0	0	0.010729	0	11	74				
MCTP2	55784	broad.mit.edu	37	15	94857556	94857556	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:94857556C>T	uc002btj.2	+	2	576	c.511C>T	c.(511-513)CAT>TAT	p.H171Y	MCTP2_uc010urg.1_Missense_Mutation_p.H171Y|MCTP2_uc002bti.2_Missense_Mutation_p.H171Y|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.H171Y|MCTP2_uc002btg.3_Missense_Mutation_p.H171Y|MCTP2_uc002bth.3_Missense_Mutation_p.H171Y	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	171					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACATCTCAACATTTTGAAGA	0.318		NaN											0	0	0	0.009096	0	4	21				
CHSY1	22856	broad.mit.edu	37	15	101718791	101718791	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:101718791G>A	uc002bwt.1	-	4	1694	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	CHSY1_uc010usd.1_Missense_Mutation_p.A132V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	404	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGTCCAAGGCTTCCCTCTG	0.532		NaN											0	0	0	0.007413	0	19	91				
ALG1	56052	broad.mit.edu	37	16	5123174	5123174	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:5123174T>C	uc002cym.2	+	3	348	c.307T>C	c.(307-309)TAC>CAC	p.Y103H	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Y103H|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	103	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AGTTTTCCAGTACGGAGTCAA	0.517		NaN											0	0	0	0.028581	0	15	50				
PLCG2	5336	broad.mit.edu	37	16	81888168	81888168	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:81888168G>A	uc002fgt.2	+	3	465	c.313G>A	c.(313-315)GTC>ATC	p.V105I	PLCG2_uc010chg.1_Missense_Mutation_p.V105I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	105	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CACTCAGTTCGTCCTCAGCAC	0.498		NaN											0	0	0	0.023175	0	35	121				
ATP1B2	482	broad.mit.edu	37	17	7557218	7557218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7557218G>A	uc002gif.1	+	3	884	c.301G>A	c.(301-303)GAA>AAA	p.E101K		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	101	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAGTGACACTGAAAGCTGGGA	0.498		NaN											0	0	0	0.006122	0	19	84				
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7577082C>A	uc002gim.2	-	8	1050	c.856G>T	c.(856-858)GAA>TAA	p.E286*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E286*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E154*|TP53_uc010cng.1_Nonsense_Mutation_p.E154*|TP53_uc002gii.1_Nonsense_Mutation_p.E154*|TP53_uc010cnh.1_Nonsense_Mutation_p.E286*|TP53_uc010cni.1_Nonsense_Mutation_p.E286*|TP53_uc002gij.2_Nonsense_Mutation_p.E286*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(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)		AGATTCTCTTCCTCTGTGCGC	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)			1	0	6.94344e-10	0.006122	7.25128e-10	19	53		Valid		
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7578534C>G	uc002gim.2	-	5	590	c.396G>C	c.(394-396)AAG>AAC	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	132	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(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)		GGCAAAACATCTTGTTGAGGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013537	0	11	54		Valid		
RICH2	9912	broad.mit.edu	37	17	12819241	12819241	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819241G>C	uc002gnr.3	+	5	627	c.300G>C	c.(298-300)GAG>GAC	p.E100D	RICH2_uc010vvk.1_Missense_Mutation_p.E100D|RICH2_uc010vvl.1_Missense_Mutation_p.E100D|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E100D|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	100	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCTGTGGAGAGACGGAGGACA	0.493		NaN											0	0	0	0.013537	0	12	27				
RICH2	9912	broad.mit.edu	37	17	12819326	12819326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819326G>A	uc002gnr.3	+	5	712	c.385G>A	c.(385-387)GAG>AAG	p.E129K	RICH2_uc010vvk.1_Missense_Mutation_p.E129K|RICH2_uc010vvl.1_Missense_Mutation_p.E129K|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E129K|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	129	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTTGCTGGCGGAGGTAAGCAG	0.512		NaN											0	0	0	0.00308	0	8	26				
LGALS9C	654346	broad.mit.edu	37	17	18394613	18394613	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:18394613G>A	uc002gtw.2	+	7	673	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q	LGALS9C_uc010vyb.1_Silent_p.Q113Q	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	201							sugar binding			ovary(1)	1						ACACGGTGCAGAGTGCCTCTG	0.542		NaN											0	0	0	0.010818	0	30	168				
ACCN1	40	broad.mit.edu	37	17	32483149	32483149	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:32483149C>T	uc002hhu.2	-	1	677	c.403G>A	c.(403-405)GAG>AAG	p.E135K		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	135	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CGCAGGGCCTCCAGCACGGAG	0.597		NaN											0	0	0	0.027356	0	26	119				
KRT9	3857	broad.mit.edu	37	17	39727637	39727637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:39727637G>A	uc002hxe.3	-	1	674	c.608C>T	c.(607-609)CCT>CTT	p.P203L	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	203	Rod.|Linker 1.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				GTTATAATAAGGGGAGTAGTT	0.443		NaN											0	0	0	0.007291	0	30	143				
MFSD11	79157	broad.mit.edu	37	17	74774367	74774367	+	Missense_Mutation	SNP	C	C	T	rs3198672		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774367C>T	uc002jta.2	+	14	2256	c.1283C>T	c.(1282-1284)TCT>TTT	p.S428F	MFSD11_uc002jtb.2_Missense_Mutation_p.S428F|MFSD11_uc010dha.2_Missense_Mutation_p.S376F|MFSD11_uc002jtc.2_Missense_Mutation_p.S428F|MFSD11_uc002jtd.3_Missense_Mutation_p.S428F|MFSD11_uc010dhb.2_Missense_Mutation_p.S376F|MFSD11_uc002jte.2_Missense_Mutation_p.S428F	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	428	Helical; (Potential).					integral to membrane				ovary(1)	1						GGAACAATTTCTTTCTTCACT	0.493		NaN											0	0	0	0.010729	0	11	79				
MFSD11	79157	broad.mit.edu	37	17	74774374	74774374	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774374C>T	uc002jta.2	+	14	2263	c.1290C>T	c.(1288-1290)TTC>TTT	p.F430F	MFSD11_uc002jtb.2_Silent_p.F430F|MFSD11_uc010dha.2_Silent_p.F378F|MFSD11_uc002jtc.2_Silent_p.F430F|MFSD11_uc002jtd.3_Silent_p.F430F|MFSD11_uc010dhb.2_Silent_p.F378F|MFSD11_uc002jte.2_Silent_p.F430F	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	430	Helical; (Potential).					integral to membrane				ovary(1)	1						TTTCTTTCTTCACTGTGGAAT	0.498		NaN											0	0	0	0.016723	0	11	81				
P4HB	5034	broad.mit.edu	37	17	79803505	79803505	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79803505C>G	uc002kbn.1	-	9	1488	c.1291G>C	c.(1291-1293)GAG>CAG	p.E431Q	P4HB_uc002kbl.1_Missense_Mutation_p.E108Q|P4HB_uc002kbm.1_Missense_Mutation_p.E108Q	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	431	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCCTCCACCTCGTTGGCAGTC	0.582		NaN											0	0	0	0.009096	0	4	25				
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79804359C>T	uc002kbn.1	-	7	1199	c.1002G>A	c.(1000-1002)CTG>CTA	p.L334L	P4HB_uc002kbl.1_Silent_p.L11L|P4HB_uc002kbm.1_Silent_p.L11L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTCTGCCGTCAGCTCCTCCG	0.632		NaN											0	0	0	0.007291	0	28	129				
VAPA	9218	broad.mit.edu	37	18	9931810	9931810	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:9931810C>T	uc002kok.2	+	2	382	c.83C>T	c.(82-84)CCC>CTC	p.P28L	VAPA_uc002koj.2_Missense_Mutation_p.P28L	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	28	Cytoplasmic (Potential).|MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						TTTACAGGCCCCTTCACAGAT	0.333		NaN											0	0	0	0.010504	0	21	88				
CABLES1	91768	broad.mit.edu	37	18	20832925	20832925	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:20832925C>A	uc002kuc.2	+	8	1448	c.1448C>A	c.(1447-1449)ACA>AAA	p.T483K	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.T218K	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	483	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGTTACAGACAACAGTGATT	0.438		NaN											1	0	5.50884e-06	0.013537	5.6419e-06	11	44				
KEAP1	9817	broad.mit.edu	37	19	10610363	10610363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:10610363C>G	uc002moq.1	-	2	503	c.347G>C	c.(346-348)CGG>CCG	p.R116P	KEAP1_uc002mor.1_Missense_Mutation_p.R116P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	116	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCCTGCTCCCGCAGCCCGTT	0.612		NaN											0	0	0	0.008291	0	11	58				
CACNA1A	773	broad.mit.edu	37	19	13476201	13476201	+	Silent	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:13476201A>G	uc010dze.2	-	5	950	c.714T>C	c.(712-714)CTT>CTC	p.L238L	CACNA1A_uc002mwy.3_Silent_p.L238L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	238	I.|Helical; Name=S5 of repeat I; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGCAAAAATAAGGATTGCAA	0.458		NaN											0	0	0	0.016723	0	14	95				
CPAMD8	27151	broad.mit.edu	37	19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17088246C>T	uc002nfb.2	-	15	1863	c.1831G>A	c.(1831-1833)GTC>ATC	p.V611I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	564						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTCTCCCTGACGTAGAAGACC	0.592		NaN											0	0	0	0.00499	0	16	94				
PLVAP	83483	broad.mit.edu	37	19	17476791	17476791	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17476791C>T	uc002ngk.1	-	3	533	c.483G>A	c.(481-483)CTG>CTA	p.L161L		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	161	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCTTCTGATTCAGCATGAAGA	0.572		NaN											0	0	0	0.010729	0	12	58				
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17487766C>T	uc002ngk.1	-	1	382	c.332G>A	c.(331-333)CGC>CAC	p.R111H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	111	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGCATTGATGCGGTCCAGGTC	0.488		NaN											0	0	0	0.010729	0	12	66				
IL12RB1	3594	broad.mit.edu	37	19	18174767	18174767	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18174767C>T	uc002nhw.1	-	13	1601	c.1537G>A	c.(1537-1539)GGT>AGT	p.G513S	IL12RB1_uc010xqb.1_Missense_Mutation_p.G513S|IL12RB1_uc002nhx.1_Missense_Mutation_p.G553S	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	513	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TAGGCTACACCAGCCCGCAGG	0.637		NaN											0	0	0	0.001984	0	6	29				
ISYNA1	51477	broad.mit.edu	37	19	18547041	18547041	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18547041G>A	uc002njd.1	-	7	826	c.776C>T	c.(775-777)TCG>TTG	p.S259L	ISYNA1_uc002nja.1_Missense_Mutation_p.S131L|ISYNA1_uc002njb.1_Missense_Mutation_p.S177L|ISYNA1_uc002njc.1_Missense_Mutation_p.S109L|ISYNA1_uc010xqh.1_Missense_Mutation_p.S57L|ISYNA1_uc002nje.1_Missense_Mutation_p.S205L|ISYNA1_uc002njf.1_Missense_Mutation_p.S109L	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	259					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						CGTGGAGGGCGACACCTCCAG	0.677		NaN											0	0	0	0.001984	0	7	48				
MLL4	9757	broad.mit.edu	37	19	36221656	36221656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:36221656G>A	uc010eei.2	+	27	5325	c.5325G>A	c.(5323-5325)TGG>TGA	p.W1775*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1775	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCGCTGCTGGTATCGGTGCC	0.597		NaN											0	0	0	0.008291	0	11	70		Valid		
ZNF404	342908	broad.mit.edu	37	19	44378165	44378165	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:44378165C>T	uc002oxs.3	-	2	201	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				CCTGATGGTACGCATTTACTT	0.318		NaN											0	0	0	0.008291	0	11	51				
IRF2BP1	26145	broad.mit.edu	37	19	46387808	46387808	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:46387808C>T	uc002pds.1	-	1	1569	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TACGGGCCGCCGGGTGCCACC	0.721		NaN											0	0	0	0.008291	0	10	53				
GRLF1	2909	broad.mit.edu	37	19	47440647	47440647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:47440647G>T	uc010ekv.2	+	2	3808	c.3808G>T	c.(3808-3810)GAG>TAG	p.E1270*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1270	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AAGATGTATTGAGTACATTGA	0.433		NaN											1	0	2.94398e-08	0.007413	3.04451e-08	16	65				
PPFIA3	8541	broad.mit.edu	37	19	49649227	49649227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:49649227G>T	uc002pmr.2	+	22	3105	c.2773G>T	c.(2773-2775)GAG>TAG	p.E925*	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.E793*|PPFIA3_uc002pmt.2_Nonsense_Mutation_p.E73*|PPFIA3_uc002pmu.1_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	925						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GATGACACACGAGGAGATGGA	0.647		NaN									OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.64293e-13	0.01892	1.75026e-13	24	130				
MYBPC2	4606	broad.mit.edu	37	19	50939937	50939937	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:50939937G>C	uc002psf.2	+	5	460	c.409G>C	c.(409-411)GAG>CAG	p.E137Q		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	137	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTACCGCCTCGAGGTCAAAGC	0.612		NaN											0	0	0	0.021523	0	24	115				
ADAM17	6868	broad.mit.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:9637283G>A	uc002qzu.2	-	14	1926	c.1743C>T	c.(1741-1743)TTC>TTT	p.F581F	ADAM17_uc010ewy.2_Silent_p.F581F|ADAM17_uc010ewz.2_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	581	Extracellular (Potential).|Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507		NaN											0	0	0	0.008361	0	31	79				
IFT172	26160	broad.mit.edu	37	2	27706492	27706492	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:27706492G>C	uc002rku.2	-	6	488	c.437C>G	c.(436-438)TCT>TGT	p.S146C	IFT172_uc002rkw.2_Missense_Mutation_p.S146C|IFT172_uc010yls.1_Missense_Mutation_p.S125C|IFT172_uc010ezc.2_Missense_Mutation_p.S146C|IFT172_uc002rkv.2_Missense_Mutation_p.S146C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	146	WD 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATAGATGGTAGATGATTTATT	0.368		NaN											0	0	0	0.00499	0	16	47				
SPTBN1	6711	broad.mit.edu	37	2	54870186	54870186	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:54870186C>G	uc002rxu.2	+	19	4174	c.3925C>G	c.(3925-3927)CTG>GTG	p.L1309V	SPTBN1_uc002rxx.2_Missense_Mutation_p.L1296V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1309	Spectrin 10.				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)			AGCCAGAAATCTGCACAGTAA	0.413		NaN											0	0	0	0.00499	0	18	92				
LONRF2	164832	broad.mit.edu	37	2	100903457	100903457	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:100903457C>G	uc002tal.3	-	11	2629	c.1989G>C	c.(1987-1989)TGG>TGC	p.W663C	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	663	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						GAGACGCGAACCAGGAAACAG	0.498		NaN											0	0	0	0.006214	0	10	67				
ARHGEF4	50649	broad.mit.edu	37	2	131704110	131704110	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:131704110C>T	uc002tsa.1	+	4	849	c.329C>T	c.(328-330)CCA>CTA	p.P110L	ARHGEF4_uc010fmw.1_Missense_Mutation_p.P756L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.P110L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.P110L|ARHGEF4_uc002trz.1_Missense_Mutation_p.P756L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	110	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ATTACCTCTCCAGAGTCTTTG	0.522		NaN											0	0	0	0.006122	0	18	129				
TTN	7273	broad.mit.edu	37	2	179666927	179666927	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:179666927T>C	uc002und.2	-	3	458	c.233A>G	c.(232-234)TAT>TGT	p.Y78C	TTN_uc010zfg.1_Missense_Mutation_p.Y78C|TTN_uc010zfh.1_Missense_Mutation_p.Y78C|TTN_uc010zfi.1_Missense_Mutation_p.Y78C|TTN_uc010zfj.1_Missense_Mutation_p.Y78C|TTN_uc002unb.2_Missense_Mutation_p.Y78C			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	78							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)			TTTCAGGGAATATCGTCCACT	0.562		NaN											0	0	0	0.01892	0	21	108				
MFF	56947	broad.mit.edu	37	2	228195544	228195544	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:228195544G>A	uc002vos.2	+	4	659	c.241G>A	c.(241-243)GAG>AAG	p.E81K	MFF_uc002vot.2_Missense_Mutation_p.E55K|MFF_uc002vou.2_Missense_Mutation_p.E81K|MFF_uc002vov.2_Missense_Mutation_p.E55K|MFF_uc002vow.2_Missense_Mutation_p.E55K|MFF_uc002vox.2_Missense_Mutation_p.E55K|MFF_uc002voy.2_Missense_Mutation_p.E81K|MFF_uc002voz.2_Missense_Mutation_p.E55K	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	81	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						GCAAGTTCCGGAGAGGATTGT	0.388		NaN											0	0	0	0.006214	0	9	29				
TRIB3	57761	broad.mit.edu	37	20	377161	377161	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:377161G>A	uc002wdm.2	+	4	1410	c.904G>A	c.(904-906)GAA>AAA	p.E302K	TRIB3_uc002wdn.2_Missense_Mutation_p.E329K	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	302	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCAGCTGAACGGCTCAC	0.687		NaN											0	0	0	0.00499	0	17	101				
KIF16B	55614	broad.mit.edu	37	20	16360474	16360474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:16360474G>A	uc002wpg.1	-	19	2331	c.2173C>T	c.(2173-2175)CAG>TAG	p.Q725*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q107*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q107*|KIF16B_uc010gch.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gci.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.Q736*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	725	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TGAAATATCTGAAACTTCTCA	0.443		NaN											0	0	0	0.008361	0	29	108				
MYT1	4661	broad.mit.edu	37	20	62836958	62836958	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:62836958G>A	uc002yii.2	+	6	566	c.202G>A	c.(202-204)GAG>AAG	p.E68K	MYT1_uc002yih.2_Missense_Mutation_p.E68K|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	68					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCTGAGGCTGAGCACCTGGT	0.622		NaN											0	0	0	0.028581	0	15	74				
KRTAP26-1	388818	broad.mit.edu	37	21	31691783	31691783	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:31691783T>A	uc002ynw.2	-	1	825	c.571A>T	c.(571-573)AGT>TGT	p.S191C		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	191						intermediate filament				ovary(1)	1						TGGCAACCACTGAACAGAGGC	0.532		NaN											0	0	0	0.01441	0	54	314				
HUNK	30811	broad.mit.edu	37	21	33371331	33371331	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:33371331G>A	uc002yph.2	+	11	2339	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	660					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GTGAAAAGCCGAGGCCGGTTC	0.612		NaN											0	0	0	0.024245	0	16	97				
AGPAT3	56894	broad.mit.edu	37	21	45389127	45389127	+	Silent	SNP	G	G	A	rs115875072	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:45389127G>A	uc002zdv.2	+	5	699	c.477G>A	c.(475-477)CTG>CTA	p.L159L	AGPAT3_uc002zdw.2_Silent_p.L159L|AGPAT3_uc002zdx.2_Silent_p.L246L|AGPAT3_uc002zdy.2_Silent_p.L97L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	159	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCGAAGGGCTGAGGCGCCTGT	0.632		NaN											0	0	0	0.008361	0	29	86				
ARVCF	421	broad.mit.edu	37	22	19960805	19960805	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:19960805G>A	uc002zqz.2	-	14	2546	c.2275C>T	c.(2275-2277)CGC>TGC	p.R759C	ARVCF_uc002zqy.2_Missense_Mutation_p.R275C	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	759	ARM 9.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TGTGCATTGCGCACATTCCGC	0.637		NaN											0	0	0	0.014758	0	5	20				
MYO18B	84700	broad.mit.edu	37	22	26193971	26193971	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:26193971A>G	uc003abz.1	+	12	2678	c.2428A>G	c.(2428-2430)ATG>GTG	p.M810V	MYO18B_uc003aca.1_Missense_Mutation_p.M691V|MYO18B_uc010guy.1_Missense_Mutation_p.M691V|MYO18B_uc010guz.1_Missense_Mutation_p.M691V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.M323V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCAGGGTGCCATGGAGATGCT	0.617		NaN											0	0	0	0.021553	0	6	128				
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:37465272C>G	uc003aqs.1	-	16	2095	c.1981G>C	c.(1981-1983)GAA>CAA	p.E661Q	TMPRSS6_uc003aqt.1_Missense_Mutation_p.E652Q	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGTCCTCTTCGTGGTACGGG	0.692		NaN											0	0	0	0.014758	0	4	21				
PICK1	9463	broad.mit.edu	37	22	38470962	38470962	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:38470962C>G	uc003auq.2	+	13	1461	c.1071C>G	c.(1069-1071)GTC>GTG	p.V357V	PICK1_uc003aur.2_Silent_p.V357V|PICK1_uc003aus.2_Silent_p.V357V|PICK1_uc003aut.2_Silent_p.V357V	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	357	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					ATGCCGACGTCTTCCCCATCG	0.532		NaN											0	0	0	0.024245	0	16	59				
CACNA1I	8911	broad.mit.edu	37	22	40030684	40030684	+	Missense_Mutation	SNP	C	C	A	rs61417992		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:40030684C>A	uc003ayc.2	+	5	695	c.695C>A	c.(694-696)GCG>GAG	p.A232E	CACNA1I_uc003ayd.2_Missense_Mutation_p.A232E|CACNA1I_uc003aye.2_Missense_Mutation_p.A147E|CACNA1I_uc003ayf.2_Missense_Mutation_p.A147E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	232	I.|Helical; Name=S5 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGCTCTGGGCGGGCCTGCTG	0.562		NaN											1	0	3.62473e-10	0.012319	3.80417e-10	21	134				
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635868G>C	uc003cnl.1	+	3	516	c.183G>C	c.(181-183)CAG>CAC	p.Q61H		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438		NaN											0	0	0	0.016723	0	14	42				
ZNF660	285349	broad.mit.edu	37	3	44635933	44635933	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635933G>C	uc003cnl.1	+	3	581	c.248G>C	c.(247-249)TGT>TCT	p.C83S		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	83	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTAAGGAGTGTGGAAAAGCT	0.443		NaN											0	0	0	0.00499	0	15	44				
PRICKLE2	166336	broad.mit.edu	37	3	64132828	64132828	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:64132828G>A	uc003dmf.2	-	7	1924	c.1338C>T	c.(1336-1338)TTC>TTT	p.F446F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	446						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGGGTTGCTGAAGTGCTTGC	0.582		NaN											0	0	0	0.008361	0	30	79				
ABI3BP	25890	broad.mit.edu	37	3	100566463	100566463	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:100566463G>A	uc003dun.2	-	17	1590	c.1505C>T	c.(1504-1506)CCT>CTT	p.P502L	ABI3BP_uc003duo.2_Missense_Mutation_p.P544L|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	502	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TGTCCATGTAGGTTCAGGGCT	0.373		NaN											0	0	0	0.01441	0	86	113				
SENP7	57337	broad.mit.edu	37	3	101060534	101060534	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:101060534T>C	uc003dut.2	-	15	2307	c.2196A>G	c.(2194-2196)CCA>CCG	p.P732P	SENP7_uc003duu.2_Silent_p.P667P|SENP7_uc003duv.2_Silent_p.P699P|SENP7_uc003duw.2_Silent_p.P666P|SENP7_uc003dux.2_Silent_p.P568P	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	732					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATTCTTCATCTGGATTAGATG	0.433		NaN											0	0	0	0.027356	0	28	38				
GOLIM4	27333	broad.mit.edu	37	3	167750586	167750586	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:167750586C>T	uc003ffe.2	-	9	1242	c.898G>A	c.(898-900)GAA>AAA	p.E300K	GOLIM4_uc011bpe.1_Missense_Mutation_p.E300K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E272K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E272K	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	300	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TTTGTGTCTTCTGCTCTTCCA	0.483		NaN											0	0	0	0.01441	0	57	78				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:178936095A>G	uc003fjk.2	+	10	1794	c.1637A>G	c.(1636-1638)CAG>CGG	p.Q546R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (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.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.00632	0	27	32		Valid		
RFC4	5984	broad.mit.edu	37	3	186512453	186512453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:186512453C>T	uc003fqz.2	-	5	627	c.404G>A	c.(403-405)CGC>CAC	p.R135H	RFC4_uc011bsc.1_Missense_Mutation_p.R135H|RFC4_uc011bsd.1_Missense_Mutation_p.R135H	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	135					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|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			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTACTCTGAGCGACTTCCTGA	0.303		NaN											0	0	0	0.016723	0	13	56				
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:7770734G>A	uc003gkg.1	-	16	2276	c.2003C>T	c.(2002-2004)TCT>TTT	p.S668F	AFAP1_uc011bwk.1_Missense_Mutation_p.S752F|LOC84740_uc003gkd.3_Intron	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GAACACTGGAGACTTAACGGA	0.547		NaN											0	0	0	0.013726	0	32	175				
SEL1L3	23231	broad.mit.edu	37	4	25836912	25836912	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:25836912G>C	uc003gru.3	-	3	919	c.767C>G	c.(766-768)TCC>TGC	p.S256C		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	256						integral to membrane	binding				0						TTCTCCACTGGAGGCATAAGG	0.488		NaN											0	0	0	0.021523	0	26	100				
COX7B2	170712	broad.mit.edu	37	4	46737107	46737107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:46737107G>C	uc003gxf.2	-	3	283	c.103C>G	c.(103-105)CAT>GAT	p.H35D	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	35	Helical; (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						TATTTATCATGAAAATCTGGT	0.423		NaN											0	0	0	0.004482	0	8	76				
LIN54	132660	broad.mit.edu	37	4	83905979	83905979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:83905979C>T	uc003hnx.3	-	2	397	c.19G>A	c.(19-21)GAG>AAG	p.E7K	LIN54_uc003hnz.3_Missense_Mutation_p.E7K|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.E7K|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.E7K	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	7					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CTATTCACCTCAGCTGGCACC	0.393		NaN											0	0	0	0.010771	0	42	104				
FHDC1	85462	broad.mit.edu	37	4	153864366	153864366	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:153864366G>A	uc003inf.2	+	1	232	c.157G>A	c.(157-159)GAG>AAG	p.E53K		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	53					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TTCAAGGGAAGAGTGTCCTTC	0.458		NaN											0	0	0	0.00308	0	6	18				
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:187540391G>C	uc003izf.2	-	10	7537	c.7349C>G	c.(7348-7350)TCA>TGA	p.S2450*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2450	Extracellular (Potential).|Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGCAGGTTTGAGAGGGTGAT	0.433		NaN								HNSCC(5;0.00058)			0	0	0	0.01892	0	25	136				
KIAA0947	23379	broad.mit.edu	37	5	5464640	5464640	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:5464640C>G	uc003jdm.3	+	13	5415	c.5193C>G	c.(5191-5193)CTC>CTG	p.L1731L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1731	Pro-rich.									ovary(1)|central_nervous_system(1)	2						CTGGCCGACTCCCACCCTGTG	0.597		NaN											0	0	0	0.001984	0	7	47				
WDR70	55100	broad.mit.edu	37	5	37379600	37379600	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:37379600C>T	uc003jkv.2	+	2	93	c.35C>T	c.(34-36)TCA>TTA	p.S12L	WDR70_uc010iva.1_Missense_Mutation_p.S12L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	12										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGACAGGCTCAGACGCGTCG	0.662		NaN											0	0	0	0.016522	0	23	93				
CCDC125	202243	broad.mit.edu	37	5	68603838	68603838	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68603838G>A	uc003jvv.1	-	4	514	c.471C>T	c.(469-471)GCC>GCT	p.A157A	CCDC125_uc003jvx.1_Silent_p.A156A|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Silent_p.A32A|CCDC125_uc003jvz.1_3'UTR	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157	Potential.					cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGACTTGTGGCTTTGCCCA	0.333		NaN											0	0	0	0.00308	0	7	47				
CCDC125	202243	broad.mit.edu	37	5	68616398	68616398	+	Translation_Start_Site	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68616398A>C	uc003jvv.1	-	1	13	c.-30T>G	c.(-32--28)ATTTT>ATGTT		CCDC125_uc003jvx.1_Translation_Start_Site|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Translation_Start_Site	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CATAAGAAAAAATGGGCTGTC	0.308		NaN											0	0	0	0.008291	0	11	25				
FAM169A	26049	broad.mit.edu	37	5	74077445	74077445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:74077445G>C	uc003kdm.2	-	13	1896	c.1853C>G	c.(1852-1854)TCT>TGT	p.S618C	FAM169A_uc010izm.2_Missense_Mutation_p.S558C|FAM169A_uc003kdl.2_Missense_Mutation_p.S436C	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	618											0						TTGCTCGGAAGATGCTTCAGA	0.468		NaN											0	0	0	0.010504	0	21	134				
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:102432327C>T	uc003koa.1	-	7	1294	c.1212G>A	c.(1210-1212)CTG>CTA	p.L404L	GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	404					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413		NaN											0	0	0	0.011902	0	47	179				
ISOC1	51015	broad.mit.edu	37	5	128430720	128430720	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:128430720C>T	uc003kva.2	+	1	279	c.261C>T	c.(259-261)TTC>TTT	p.F87F		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	87						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCAAGGGCTTCGCGGTGAGCG	0.622		NaN											0	0	0	0.009096	0	4	23				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139838425	139838425	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:139838425G>A	uc003lfs.1	+	8	1582	c.1458G>A	c.(1456-1458)ATG>ATA	p.M486I	ANKHD1_uc003lfq.1_Missense_Mutation_p.M486I|ANKHD1_uc003lfr.2_Missense_Mutation_p.M486I|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.M475I|ANKHD1_uc003lfo.2_Missense_Mutation_p.M486I|ANKHD1_uc010jfk.2_Missense_Mutation_p.M486I	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	486						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAATGGTGGCACTAC	0.398		NaN											0	0	0	0.008291	0	11	79				
PCDHA11	56138	broad.mit.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140250913G>A	uc003lia.2	+	1	3083	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R742H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	742	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677		NaN											0	0	0	0.020292	0	15	56				
C5orf41	153222	broad.mit.edu	37	5	172517948	172517948	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:172517948C>T	uc003mch.2	+	4	1070	c.766C>T	c.(766-768)CAC>TAC	p.H256Y	C5orf41_uc003mcg.2_Missense_Mutation_p.H256Y|C5orf41_uc003mcf.2_Missense_Mutation_p.H256Y|C5orf41_uc011dfd.1_Missense_Mutation_p.H256Y	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	256							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCCAGATTCACACAGATGC	0.468		NaN											0	0	0	0.020292	0	14	56				
NUP153	9972	broad.mit.edu	37	6	17675190	17675190	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:17675190G>A	uc003ncd.1	-	5	998	c.798C>T	c.(796-798)TAC>TAT	p.Y266Y	NUP153_uc011dje.1_Silent_p.Y266Y|NUP153_uc010jpl.1_Silent_p.Y266Y	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	266					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCCCACCGTATGTTGTTT	0.373		NaN											0	0	0	0.00499	0	17	60				
GPLD1	2822	broad.mit.edu	37	6	24429286	24429286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:24429286G>C	uc003ned.1	-	25	2608	c.2497C>G	c.(2497-2499)CAC>GAC	p.H833D		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	833	FG-GAP 7.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CTATAGACGTGAAGTGCCCCG	0.458		NaN											0	0	0	0.00308	0	8	48				
MDC1	9656	broad.mit.edu	37	6	30675515	30675515	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:30675515C>T	uc003nrg.3	-	8	3281	c.2841G>A	c.(2839-2841)CAG>CAA	p.Q947Q	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	947				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GCTCCCCTCTCTGTGTATCTC	0.592		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.014323	0	24	98				
COL11A2	1302	broad.mit.edu	37	6	33142356	33142356	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:33142356C>T	uc003ocx.1	-	31	2606	c.2378G>A	c.(2377-2379)GGC>GAC	p.G793D	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G707D|COL11A2_uc003ocz.1_Missense_Mutation_p.G686D	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	793	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						ACCCAGCTTGCCCTGTGGAGG	0.617		NaN											0	0	0	0.009096	0	3	37				
DNAH8	1769	broad.mit.edu	37	6	38854693	38854693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:38854693C>T	uc003ooe.1	+	55	8335	c.7735C>T	c.(7735-7737)CGA>TGA	p.R2579*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGGAGGTGGTCGAAATGATAT	0.378		NaN											0	0	0	0.007413	0	20	72				
PKHD1	5314	broad.mit.edu	37	6	51524597	51524597	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:51524597T>C	uc003pah.1	-	61	10603	c.10327A>G	c.(10327-10329)AGT>GGT	p.S3443G		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3443	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCATTTACACTGCTAAAGACA	0.413		NaN											0	0	0	0.021523	0	27	101				
MANEA	79694	broad.mit.edu	37	6	96053848	96053848	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:96053848G>A	uc003poo.1	+	5	1096	c.956G>A	c.(955-957)GGA>GAA	p.G319E		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	319	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GGTTTTGATGGAATTTACACA	0.338		NaN											0	0	0	0.008291	0	10	40				
NCOA7	135112	broad.mit.edu	37	6	126210736	126210736	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:126210736C>T	uc010kes.2	+	11	1985	c.1536C>T	c.(1534-1536)AAC>AAT	p.N512N	NCOA7_uc003qae.3_Silent_p.N512N|NCOA7_uc003qah.2_Silent_p.N501N|NCOA7_uc003qai.2_Silent_p.N512N|NCOA7_uc010ket.2_Silent_p.N397N	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	512				LNIHEDL->ANAHEDA: No action on the E2- induced ESR1 binding.	cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACACACTGAACATACATGAAG	0.388		NaN											0	0	0	0.020292	0	14	63				
CNKSR3	154043	broad.mit.edu	37	6	154732170	154732170	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:154732170G>C	uc003qpy.2	-	11	1682	c.1177C>G	c.(1177-1179)CGG>GGG	p.R393G		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	393	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTCGTCTCCGGCTTTCCTGG	0.483		NaN											0	0	0	0.016723	0	14	150				
SEMA3D	223117	broad.mit.edu	37	7	84651768	84651768	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:84651768C>T	uc003uic.2	-	11	1393	c.1353G>A	c.(1351-1353)CAG>CAA	p.Q451Q	SEMA3D_uc010led.2_Silent_p.Q451Q|SEMA3D_uc003uib.2_Silent_p.Q90Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	451	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CCACCACTATCTGTGTCAGTC	0.403		NaN											0	0	0	0.019004	0	34	160				
MEPCE	56257	broad.mit.edu	37	7	100028509	100028509	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:100028509C>A	uc003uuw.2	+	1	981	c.868C>A	c.(868-870)CTC>ATC	p.L290I	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	290							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGCCCCTCTCACCCCCTT	0.667		NaN											1	0	4.34311e-12	0.015359	4.60369e-12	36	102				
DOCK4	9732	broad.mit.edu	37	7	111580178	111580178	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:111580178G>A	uc003vfx.2	-	11	1233	c.964C>T	c.(964-966)CTG>TTG	p.L322L	DOCK4_uc003vfy.2_Silent_p.L322L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L322L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					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)				TATACTTTCAGAATGAGGTCA	0.493		NaN											0	0	0	0.013537	0	12	67				
CREB3L2	64764	broad.mit.edu	37	7	137590506	137590506	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:137590506G>A	uc003vtw.2	-	6	1252	c.857C>T	c.(856-858)CCC>CTC	p.P286L	CREB3L2_uc003vtx.1_Missense_Mutation_p.P286L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P223L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	286	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						TTTTGACAGGGGCAATTTGGT	0.522		NaN	T	FUS	fibromyxoid sarcoma								0	0	0	0.015359	0	34	161				
VIPR2	7434	broad.mit.edu	37	7	158935195	158935195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:158935195G>A	uc003woh.2	-	2	280	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	32	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCCTCCTGTATTTCCAGA	0.398		NaN											0	0	0	0.021523	0	23	99				
MTUS1	57509	broad.mit.edu	37	8	17611479	17611479	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:17611479T>G	uc003wxv.2	-	2	2312	c.1838A>C	c.(1837-1839)GAA>GCA	p.E613A	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E613A|MTUS1_uc010lsz.2_Missense_Mutation_p.E613A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	613						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GTCAACATCTTCCTGATTCGA	0.428		NaN											0	0	0	0.015359	0	33	125				
PREX2	80243	broad.mit.edu	37	8	68956794	68956794	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:68956794G>C	uc003xxv.1	+	8	939	c.912G>C	c.(910-912)GTG>GTC	p.V304V	PREX2_uc003xxu.1_Silent_p.V304V|PREX2_uc011lez.1_Silent_p.V239V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	304	PH.				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						ACACGGAGGTGATGGAAGTGG	0.413		NaN											0	0	0	0.024245	0	13	120				
FAM164A	51101	broad.mit.edu	37	8	79609675	79609675	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:79609675C>G	uc003ybd.2	+	6	640	c.538C>G	c.(538-540)CCT>GCT	p.P180A		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	180										ovary(1)	1						GTCAAATTCTCCTGGAACTGC	0.368		NaN											0	0	0	0.006214	0	9	55				
CNBD1	168975	broad.mit.edu	37	8	88218312	88218312	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:88218312C>T	uc003ydy.2	+	5	571	c.523C>T	c.(523-525)CTG>TTG	p.L175L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	175										ovary(3)	3						TGATAAGCATCTGAAAACACT	0.398		NaN											0	0	0	0.014758	0	5	30				
ATAD2	29028	broad.mit.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:124383508C>G	uc003yqh.3	-	5	715	c.607G>C	c.(607-609)GAA>CAA	p.E203Q	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E203Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308		NaN											0	0	0	0.004482	0	8	28				
SCRIB	23513	broad.mit.edu	37	8	144886946	144886946	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:144886946A>T	uc003yzp.1	-	21	2808	c.2801T>A	c.(2800-2802)CTG>CAG	p.L934Q	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.L934Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	934	PDZ 2.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCGGTCAGCAGGGAGACGGC	0.602		NaN											0	0	0	0.014758	0	4	22				
DOCK8	81704	broad.mit.edu	37	9	336580	336580	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:336580A>T	uc003zgf.2	+	12	1398	c.1286_splice	c.e12-2	p.G429_splice	DOCK8_uc011lls.1_Splice_Site_p.G429_splice|DOCK8_uc010mgu.2_Splice_Site|DOCK8_uc010mgv.2_Splice_Site_p.G361_splice|DOCK8_uc003zgg.2_Splice_Site_p.G361_splice|DOCK8_uc003zgh.2_Splice_Site	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTTCTTAAAGGGAGAAGCT	0.423		NaN											0	0	0	0.013537	0	13	51				
RFX3	5991	broad.mit.edu	37	9	3330299	3330299	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:3330299C>T	uc003zhr.2	-	5	746	c.434G>A	c.(433-435)GGT>GAT	p.G145D	RFX3_uc010mhd.2_Missense_Mutation_p.G145D|RFX3_uc003zhs.1_Missense_Mutation_p.G145D|RFX3_uc003zht.1_Missense_Mutation_p.G145D|RFX3_uc010mhe.1_Missense_Mutation_p.G145D	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	145					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGAGTGACCAGAATTCTC	0.458		NaN											0	0	0	0.00308	0	7	63				
TBC1D2	55357	broad.mit.edu	37	9	100991351	100991351	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:100991351C>G	uc011lvb.1	-	5	1041	c.861G>C	c.(859-861)CAG>CAC	p.Q287H	TBC1D2_uc004ayq.2_Missense_Mutation_p.Q287H|TBC1D2_uc004ayr.2_Missense_Mutation_p.Q69H|TBC1D2_uc004ayo.3_Missense_Mutation_p.Q287H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	287						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGTTGTTCTGGCGCTTGG	0.532		NaN											0	0	0	0.016723	0	14	89				
GOLGA1	2800	broad.mit.edu	37	9	127642825	127642825	+	Missense_Mutation	SNP	C	C	T	rs146171341	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:127642825C>T	uc004bpc.2	-	23	2630	c.2288G>A	c.(2287-2289)CGG>CAG	p.R763Q	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	763						Golgi cisterna membrane				ovary(1)	1						CCATGGTATCCGAGGGTTTGA	0.502		NaN											0	0	0	0.01892	0	23	169				
NUP188	23511	broad.mit.edu	37	9	131760889	131760889	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:131760889C>T	uc004bws.1	+	32	3524	c.3502C>T	c.(3502-3504)CGG>TGG	p.R1168W	NUP188_uc004bwu.2_Missense_Mutation_p.R511W	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1168					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TATCCTCCTCCGGCAGTGGAA	0.567		NaN											0	0	0	0.028581	0	14	90				
MAMDC4	158056	broad.mit.edu	37	9	139754396	139754396	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:139754396C>G	uc004cjs.2	+	26	3302	c.3252C>G	c.(3250-3252)CTC>CTG	p.L1084L	MAMDC4_uc011mej.1_Silent_p.L421L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1163	Helical; (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTATTGCTCATGCTCCTGG	0.647		NaN											0	0	0	0.006122	0	16	32				
TLR7	51284	broad.mit.edu	37	X	12906301	12906301	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:12906301G>C	uc004cvc.2	+	3	2813	c.2674G>C	c.(2674-2676)GAT>CAT	p.D892H		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	892	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CTGTTGCTATGATGCTTTTAT	0.433		NaN											0	0	0	0.00632	0	29	187				
GLRA2	2742	broad.mit.edu	37	X	14550396	14550396	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:14550396G>C	uc010nep.2	+	3	436	c.104G>C	c.(103-105)GGA>GCA	p.G35A	GLRA2_uc010neq.2_Missense_Mutation_p.G35A|GLRA2_uc004cwe.3_Missense_Mutation_p.G35A|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.G13A	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	35	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCAGGTCTGGAAAACAACCT	0.413		NaN											0	0	0	0.010504	0	21	78				
PHEX	5251	broad.mit.edu	37	X	22094533	22094533	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:22094533G>C	uc004dah.2	+	4	580	c.377G>C	c.(376-378)AGG>ACG	p.R126T	PHEX_uc011mjr.1_Missense_Mutation_p.R126T|PHEX_uc011mjs.1_Missense_Mutation_p.R29T	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	126	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ATCAGTAGAAGGCGGGACACC	0.383		NaN											0	0	0	0.021553	0	5	35				
DGKK	139189	broad.mit.edu	37	X	50117981	50117981	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:50117981C>T	uc010njr.1	-	26	3550	c.3490G>A	c.(3490-3492)GAT>AAT	p.D1164N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1164					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					AGCTTTTCATCCAGGAAAGCT	0.473		NaN											0	0	0	0.014758	0	5	26				
FGD1	2245	broad.mit.edu	37	X	54496484	54496484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:54496484G>A	uc004dtg.2	-	4	1800	c.1066C>T	c.(1066-1068)CCA>TCA	p.P356S	FGD1_uc011moi.1_Missense_Mutation_p.P114S	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	356					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGGGGCACTGGGATTTCTCTG	0.478		NaN											0	0	0	0.004482	0	9	33				
TRPC5	7224	broad.mit.edu	37	X	111019559	111019559	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:111019559T>C	uc004epl.1	-	11	3823	c.2904A>G	c.(2902-2904)CAA>CAG	p.Q968Q		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	968	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GAGTTGTAACTTGTTCTTCCT	0.423		NaN											0	0	0	0.014758	0	5	62				
DOCK11	139818	broad.mit.edu	37	X	117814457	117814457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:117814457G>A	uc004eqp.2	+	49	5536	c.5473G>A	c.(5473-5475)GAG>AAG	p.E1825K	DOCK11_uc004eqq.2_Missense_Mutation_p.E1604K	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1825	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AAATGCCAAAGAGCTTGATCC	0.289		NaN											0	0	0	0.016723	0	13	66				
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:139866027G>C	uc004fbg.1	-	1	697	c.505C>G	c.(505-507)CGT>GGT	p.R169G	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	169	5.|6 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423		NaN											0	0	0	0.01441	0	63	266				
MAGEA8	4107	broad.mit.edu	37	X	149013352	149013352	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:149013352T>C	uc004fdw.1	+	3	521	c.306T>C	c.(304-306)GCT>GCC	p.A102A		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	102											0	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACCCAGCTCACCTGGAGT	0.557		NaN											0	0	0	0.007291	0	30	145				
KLF5	688	broad.mit.edu	37	13	73636680	73636683	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			CAAG	-	CAAG	CAAG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:73636680_73636683delCAAG	uc001vje.2	+	2	1267_1270	c.943_946delCAAG	c.(943-948)CAAGCAfs	p.Q315fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.Q224fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	315_316					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGATAGACAAGCAGAGATGCT	0.495		NaN											NaN	NaN	NaN	NaN	NaN	19	142	---	Valid	---	---
OR4M1	441670	broad.mit.edu	37	14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:20248931delG	uc010tku.1	+	1	450	c.450delG	c.(448-450)ATGfs	p.M150fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTGGATGGGGGGCTTCA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	7	582	---		---	---
ZFP36L1	677	broad.mit.edu	37	14	69256630	69256631	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:69256630_69256631insG	uc001xkh.1	-	2	766_767	c.636_637insC	c.(634-639)GCCACCfs	p.A212fs	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.A212fs	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	212_213					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		gcagcggcggtggcagcggcAC	0.589		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	30	140	---	Valid	---	---
FBN1	2200	broad.mit.edu	37	15	48826273	48826286	+	Splice_Site	DEL	TTACCTTCACATTT	TTACCTTCACATTT	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:48826273_48826286delTTACCTTCACATTT	uc001zwx.1	-	8	1190	c.862_splice	c.e8+1	p.D288_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAGATTTCTTACCTTCACATTTTTGTGACACT	0.435		NaN											NaN	NaN	NaN	NaN	NaN	11	586	---		---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073515	3073517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:3073515_3073517delCTC	uc002csx.1	-	3	243_245	c.110_112delGAG	c.(109-114)GGAGCT>GCT	p.G37del	HCFC1R1_uc002csy.1_In_Frame_Del_p.G37del|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	37						cytoplasm|nucleus					0						ATGGGCACAGCTCCTCGGAGAGG	0.626		NaN											NaN	NaN	NaN	NaN	NaN	9	43	---		---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140767492_140767497delTGCCAG	uc003lkc.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)CTGCCAGTG>CTG	p.PV15del	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_uc011dav.1_In_Frame_Del_p.PV15del	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	15_16					calcium-dependent cell-cell adhesion|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)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617		NaN									OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	5	3	---		---	---
