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
PRAMEF2	65122	broad.mit.edu	37	1	12920055	12920055	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:12920055G>T	uc001aum.1	+	3	882	c.795G>T	c.(793-795)AGG>AGT	p.R265S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	265											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCCTCAGGCTGGAACACC	0.453000												
GALE	2582	broad.mit.edu	37	1	24124220	24124220	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:24124220C>T	uc009vqo.1	-	5	703	c.493G>A	c.(493-495)GAG>AAG	p.E165K	GALE_uc001bhv.1_Missense_Mutation_p.E165K|GALE_uc001bhw.1_Missense_Mutation_p.E165K|GALE_uc001bhx.1_Missense_Mutation_p.E165K|GALE_uc009vqp.1_Missense_Mutation_p.E165K|GALE_uc001bhy.1_Missense_Mutation_p.E165K|GALE_uc001bhz.1_Missense_Mutation_p.E91K|GALE_uc001bia.2_5'Flank	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	165			E -> K (in EDG).		galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCATTTCCTCGATGAAGAAC	0.612000												
ZNF643	65243	broad.mit.edu	37	1	40929058	40929058	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:40929058G>C	uc001cfn.1	+	5	1699	c.1402G>C	c.(1402-1404)GTC>CTC	p.V468L	ZNF643_uc001cfl.1_Missense_Mutation_p.V366L|ZNF643_uc001cfm.1_Missense_Mutation_p.V334L	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	468	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			CCATCAGAGAGTCCATACTGG	0.388000												
IPO13	9670	broad.mit.edu	37	1	44424237	44424237	+	Silent	SNP	C	C	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:44424237C>A	uc001ckx.2	+	10	2649	c.1854C>A	c.(1852-1854)ATC>ATA	p.I618I		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	618	HEAT 10.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACCCTATATCCAGCAACTGG	0.572000												
RPE65	6121	broad.mit.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:68906582A>T	uc001dei.1	-	6	651	c.597T>A	c.(595-597)AAT>AAA	p.N199K		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						CAATTGAAAAATTTTTTCCAA	0.388000												
HRNR	388697	broad.mit.edu	37	1	152192118	152192118	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:152192118C>T	uc001ezt.1	-	3	2063	c.1987G>A	c.(1987-1989)GGC>AGC	p.G663S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	663	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCGGCCGCGACTAGGA	0.592000												
SPRR1A	6698	broad.mit.edu	37	1	152957856	152957856	+	Missense_Mutation	SNP	C	C	G	rs143282605	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:152957856C>G	uc009wnu.1	+	2	228	c.150C>G	c.(148-150)CAC>CAG	p.H50Q	SPRR1A_uc001faw.2_Missense_Mutation_p.H50Q	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	50	6 X 8 AA approximate tandem repeats.|3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCCACCCCAAAGTGC	0.647000												
CD1A	909	broad.mit.edu	37	1	158227221	158227221	+	Silent	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:158227221T>C	uc001frt.2	+	5	1427	c.894T>C	c.(892-894)AGT>AGC	p.S298S		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	298	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGCATCACAGTTCCGTGGGCT	0.463000												
SPTA1	6708	broad.mit.edu	37	1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:158585162C>T	uc001fst.1	-	48	6831	c.6632G>A	c.(6631-6633)CGT>CAT	p.R2211H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGTTAGTTGACGCTTCATCGC	0.483000												
TTC13	79573	broad.mit.edu	37	1	231044732	231044732	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:231044732T>C	uc001huf.3	-	21	2375	c.2344A>G	c.(2344-2346)ATG>GTG	p.M782V	TTC13_uc009xfi.2_Missense_Mutation_p.M729V|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.M728V|TTC13_uc009xfk.1_Missense_Mutation_p.M671V	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	782							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCACTTGCCATCAGTGCTCCC	0.408000												
NEBL	10529	broad.mit.edu	37	10	21117564	21117564	+	Splice_Site	SNP	C	C	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:21117564C>G	uc001iqi.2	-	17	2069	c.1672_splice	c.e17-1	p.R558_splice	NEBL_uc001iqj.2_Splice_Site|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_Splice_Site	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform						regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TATACTTTCTCTAAAAACATA	0.249000												
ARMC3	219681	broad.mit.edu	37	10	23295908	23295908	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:23295908C>T	uc001irm.3	+	14	1910	c.1827C>T	c.(1825-1827)TAC>TAT	p.Y609Y	ARMC3_uc010qcv.1_Silent_p.Y609Y|ARMC3_uc010qcw.1_Silent_p.Y346Y	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	609							binding				0						GTAAATCTTACGTGTGAGTCT	0.468000												
PTCHD3	374308	broad.mit.edu	37	10	27702414	27702414	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:27702414C>T	uc001itu.2	-	1	884	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	256					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CTGTACCTCGCGCACACCTGC	0.622000												
ZNF33A	7581	broad.mit.edu	37	10	38344966	38344966	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:38344966A>C	uc001izh.2	+	5	2089	c.1911A>C	c.(1909-1911)AAA>AAC	p.K637N	ZNF33A_uc001izg.2_Missense_Mutation_p.K638N|ZNF33A_uc010qev.1_Missense_Mutation_p.K644N|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	637	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AACCCTATAAATGTAATGAGT	0.393000												
PGBD3	267004	broad.mit.edu	37	10	50724334	50724334	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:50724334T>C	uc001jht.2	-	2	1082	c.827A>G	c.(826-828)TAT>TGT	p.Y276C	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.Y744C|PGBD3_uc001jhu.2_Missense_Mutation_p.Y744C	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	276										pancreas(1)|breast(1)|skin(1)	3						ACGACCAAAATAAGGAACCAT	0.408000												
PCDH15	65217	broad.mit.edu	37	10	56077046	56077046	+	Silent	SNP	A	A	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:56077046A>T	uc001jju.1	-	8	1256	c.861T>A	c.(859-861)CCT>CCA	p.P287P	PCDH15_uc010qhq.1_Silent_p.P292P|PCDH15_uc010qhr.1_Silent_p.P287P|PCDH15_uc010qhs.1_Silent_p.P292P|PCDH15_uc010qht.1_Silent_p.P287P|PCDH15_uc010qhu.1_Silent_p.P287P|PCDH15_uc001jjv.1_Silent_p.P265P|PCDH15_uc010qhv.1_Silent_p.P287P|PCDH15_uc010qhw.1_Silent_p.P250P|PCDH15_uc010qhx.1_Silent_p.P287P|PCDH15_uc010qhy.1_Silent_p.P292P|PCDH15_uc010qhz.1_Silent_p.P287P|PCDH15_uc010qia.1_Silent_p.P265P|PCDH15_uc010qib.1_Silent_p.P265P|PCDH15_uc001jjw.2_Silent_p.P287P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	287	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTCAACTCAGGTATGGCAG	0.393000										HNSCC(58;0.16)		
SAR1A	56681	broad.mit.edu	37	10	71913593	71913593	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:71913593C>T	uc010qjh.1	-	7	683	c.480_splice	c.e7+1	p.K160_splice	SAR1A_uc010qji.1_Splice_Site_p.K160_splice|SAR1A_uc010qjj.1_Splice_Site_p.K117_splice	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN	SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0						TTTTCTCTTACCTTTCCTGTG	0.343000												
MMRN2	79812	broad.mit.edu	37	10	88702628	88702628	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:88702628C>T	uc001kea.2	-	6	2040	c.1913G>A	c.(1912-1914)CGC>CAC	p.R638H	MMRN2_uc010qmn.1_Missense_Mutation_p.R281H|MMRN2_uc009xtb.2_Missense_Mutation_p.R595H	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	638						extracellular space				large_intestine(1)	1						CAGGGCCACGCGGATCTGCTC	0.736000												
PDCD11	22984	broad.mit.edu	37	10	105158256	105158256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:105158256C>T	uc001kwy.1	+	2	160	c.73C>T	c.(73-75)CAG>TAG	p.Q25*	USMG5_uc001kww.1_5'Flank|USMG5_uc001kwx.1_5'Flank	NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	25					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGCTTTCCAGCAGTCAGTTGA	0.413000												
C10orf81	79949	broad.mit.edu	37	10	115526470	115526470	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:115526470A>G	uc001lat.1	+	3	761	c.199A>G	c.(199-201)ATT>GTT	p.I67V	C10orf81_uc001lar.1_Missense_Mutation_p.I73V|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	67	PH.									central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TTCCATTGAAATTGATCAGTG	0.353000												
OR51F1	256892	broad.mit.edu	37	11	4790778	4790778	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:4790778G>A	uc010qyl.1	-	1	370	c.370C>T	c.(370-372)CGT>TGT	p.R124C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	124						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCACATAACGGTCAAAGGCT	0.428000												
MS4A14	84689	broad.mit.edu	37	11	60170398	60170398	+	Missense_Mutation	SNP	C	C	T	rs146613208	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60170398C>T	uc001npj.2	+	4	897	c.332C>T	c.(331-333)ACG>ATG	p.T111M	MS4A14_uc001npi.2_Translation_Start_Site|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Missense_Mutation_p.T94M|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	111	Helical; (Potential).					integral to membrane	receptor activity			breast(1)	1						CAAGGTGTCACGGGCATGAAT	0.358000												
MS4A10	341116	broad.mit.edu	37	11	60558491	60558491	+	Silent	SNP	C	C	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60558491C>A	uc001npz.1	+	3	324	c.228C>A	c.(226-228)GGC>GGA	p.G76G		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	76	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						TCTTTGGGGGCTACCTGGCCT	0.562000												
CCDC86	79080	broad.mit.edu	37	11	60609973	60609973	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60609973A>C	uc001nqa.2	+	1	545	c.376A>C	c.(376-378)AAG>CAG	p.K126Q	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	126	Pro-rich.				interspecies interaction between organisms	nucleus					0						GGAGGCACCAAAGTGTTCTCA	0.617000												
DDB1	1642	broad.mit.edu	37	11	61094279	61094279	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:61094279G>A	uc001nrc.3	-	5	862	c.636C>T	c.(634-636)GTC>GTT	p.V212V	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.V212V|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.V212V|DDB1_uc009ynl.1_Silent_p.V99V	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	212	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CTTCAGCTTCGACATTTTCCT	0.532000								NER				
DAGLA	747	broad.mit.edu	37	11	61508640	61508640	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:61508640G>A	uc001nsa.2	+	19	2101	c.1990G>A	c.(1990-1992)GAG>AAG	p.E664K		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	664	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCAGGTGCTGGAGAACTACAA	0.632000												
CTSW	1521	broad.mit.edu	37	11	65650595	65650595	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:65650595G>T	uc001ogc.1	+	8	843	c.801G>T	c.(799-801)AAG>AAT	p.K267N	CTSW_uc001ogb.1_Missense_Mutation_p.K267N	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	267					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TCAACATGAAGCCCCTTCAGG	0.607000												
CABP2	51475	broad.mit.edu	37	11	67287394	67287394	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:67287394G>A	uc001omc.1	-	6	609	c.507C>T	c.(505-507)GAC>GAT	p.D169D	CABP2_uc001omd.1_Silent_p.D112D|CABP2_uc001ome.1_Silent_p.D175D	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	169	EF-hand 3.|2 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						TGATGCGGCCGTCCCCATTGG	0.682000												
PDE2A	5138	broad.mit.edu	37	11	72289976	72289976	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:72289976G>T	uc010rrc.1	-	28	2677	c.2434C>A	c.(2434-2436)CAG>AAG	p.Q812K	PDE2A_uc001oso.2_Missense_Mutation_p.Q791K|PDE2A_uc010rra.1_Missense_Mutation_p.Q805K|PDE2A_uc001osn.2_Missense_Mutation_p.Q556K|PDE2A_uc010rrb.1_Missense_Mutation_p.Q803K|PDE2A_uc010rrd.1_Missense_Mutation_p.Q697K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	812	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCTTGGTCTGGTCAGAGAGG	0.597000												
ARAP1	116985	broad.mit.edu	37	11	72398783	72398783	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:72398783G>A	uc001osu.2	-	32	4260	c.4071C>T	c.(4069-4071)TGC>TGT	p.C1357C	ARAP1_uc001osv.2_Silent_p.C1346C|ARAP1_uc001osr.2_Silent_p.C1117C|ARAP1_uc001oss.2_Silent_p.C1112C|ARAP1_uc009yth.2_Silent_p.C1040C|ARAP1_uc010rre.1_Silent_p.C1101C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1357	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						TGAAGCCCCAGCTACAGAGGA	0.562000												
ARHGAP20	57569	broad.mit.edu	37	11	110451527	110451527	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:110451527G>T	uc001pkz.1	-	16	2428	c.2143C>A	c.(2143-2145)CTT>ATT	p.L715I	ARHGAP20_uc001pky.1_Missense_Mutation_p.L692I|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L679I|ARHGAP20_uc001pla.1_Missense_Mutation_p.L679I|ARHGAP20_uc001plb.2_Missense_Mutation_p.L258I	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	715					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGTAGGAAAGCTTTGAATCC	0.483000												
CACNA1C	775	broad.mit.edu	37	12	2675732	2675732	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:2675732G>T	uc009zdu.1	+	12	1966	c.1653G>T	c.(1651-1653)TGG>TGT	p.W551C	CACNA1C_uc009zdv.1_Missense_Mutation_p.W548C|CACNA1C_uc001qkb.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkc.2_Missense_Mutation_p.W551C|CACNA1C_uc001qke.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkf.2_Missense_Mutation_p.W551C|CACNA1C_uc001qjz.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkd.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkg.2_Missense_Mutation_p.W551C|CACNA1C_uc009zdw.1_Missense_Mutation_p.W551C|CACNA1C_uc001qkh.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkl.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkn.2_Missense_Mutation_p.W551C|CACNA1C_uc001qko.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkp.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkr.2_Missense_Mutation_p.W551C|CACNA1C_uc001qku.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkq.2_Missense_Mutation_p.W551C|CACNA1C_uc001qks.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkt.2_Missense_Mutation_p.W551C|CACNA1C_uc001qka.1_Missense_Mutation_p.W86C|CACNA1C_uc001qki.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkj.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkk.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkm.1_Missense_Mutation_p.W287C|CACNA1C_uc009zdy.1_Missense_Mutation_p.W216C|CACNA1C_uc001qkv.1_Missense_Mutation_p.W121C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	551	Extracellular (Potential).|II.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCCCAACTGGCTCACAGAAG	0.577000												
CHD4	1108	broad.mit.edu	37	12	6690868	6690868	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:6690868G>A	uc001qpo.2	-	31	4792	c.4628C>T	c.(4627-4629)CCC>CTC	p.P1543L	CHD4_uc001qpn.2_Missense_Mutation_p.P1536L|CHD4_uc001qpp.2_Missense_Mutation_p.P1568L|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1543					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGAGTGGAGGGTGTAGGAGT	0.552000												
NELL2	4753	broad.mit.edu	37	12	45173632	45173632	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:45173632T>C	uc001rog.2	-	4	1104	c.509A>G	c.(508-510)AAA>AGA	p.K170R	NELL2_uc001rof.3_Missense_Mutation_p.K169R|NELL2_uc001roh.2_Missense_Mutation_p.K170R|NELL2_uc009zkd.2_Missense_Mutation_p.K169R|NELL2_uc010skz.1_Missense_Mutation_p.K220R|NELL2_uc010sla.1_Missense_Mutation_p.K193R|NELL2_uc001roi.1_Missense_Mutation_p.K170R|NELL2_uc010slb.1_Missense_Mutation_p.K169R|NELL2_uc001roj.2_Missense_Mutation_p.K170R	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	170	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTACACTTACTTATTGCAGTC	0.373000												
KRT75	9119	broad.mit.edu	37	12	52824425	52824425	+	Missense_Mutation	SNP	C	C	T	rs148227046	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:52824425C>T	uc001saj.2	-	5	957	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	312	Linker 12.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTCCAGGTTGCGGTTGTTGTC	0.572000												
WDR66	144406	broad.mit.edu	37	12	122404867	122404867	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:122404867G>A	uc009zxk.2	+	16	2641	c.2499G>A	c.(2497-2499)ACG>ACA	p.T833T		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	833							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCAGAAAGACGCTTCTGGGGC	0.378000												
SACS	26278	broad.mit.edu	37	13	23905122	23905122	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:23905122A>C	uc001uon.2	-	10	13482	c.12893T>G	c.(12892-12894)CTT>CGT	p.L4298R	SACS_uc001uoo.2_Missense_Mutation_p.L4151R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4298					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTAACCTTAAGCTTTTTGGG	0.453000												
MTUS2	23281	broad.mit.edu	37	13	29598939	29598939	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:29598939C>T	uc001usl.3	+	1	192	c.134C>T	c.(133-135)ACG>ATG	p.T45M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	35						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTGGGAGATACGAATGCCAAT	0.433000												
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:36241642C>T	uc001uvb.2	+	56	8739	c.8533C>T	c.(8533-8535)CGA>TGA	p.R2845*	NBEA_uc010abi.2_Nonsense_Mutation_p.R1503*|NBEA_uc010tef.1_Nonsense_Mutation_p.R638*|NBEA_uc001uvd.2_Nonsense_Mutation_p.R423*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428000												
FREM2	341640	broad.mit.edu	37	13	39425246	39425246	+	Splice_Site	SNP	G	G	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:39425246G>C	uc001uwv.2	+	10	7051	c.6742_splice	c.e10+1	p.K2248_splice	FREM2_uc001uww.2_Splice_Site_p.K334_splice	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGCTGATAGTAAGAAATCT	0.323000												
CLYBL	171425	broad.mit.edu	37	13	100425205	100425205	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:100425205T>A	uc001vok.2	+	2	204	c.190T>A	c.(190-192)TCC>ACC	p.S64T	CLYBL_uc010tix.1_Missense_Mutation_p.S64T|CLYBL_uc010tiy.1_Missense_Mutation_p.S64T	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	64					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGATTCCATCCCTGAATGT	0.413000												
METT11D1	64745	broad.mit.edu	37	14	21464860	21464860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:21464860C>T	uc001vyn.2	+	13	1452	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	METT11D1_uc001vym.2_Missense_Mutation_p.R419W|METT11D1_uc001vyo.2_Missense_Mutation_p.R419W|METT11D1_uc001vyp.2_Missense_Mutation_p.R261W|METT11D1_uc001vyq.2_Missense_Mutation_p.R261W|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	419					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACAGCCCGCCGGCACGGCAG	0.582000												
PAX9	5083	broad.mit.edu	37	14	37132490	37132490	+	Silent	SNP	C	C	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:37132490C>A	uc001wty.3	+	3	1110	c.393C>A	c.(391-393)ATC>ATA	p.I131I	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	131					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCAACAAGATCGGCAACTTGG	0.627000												
C14orf174	161394	broad.mit.edu	37	14	77845388	77845388	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:77845388C>T	uc001xtq.1	+	1	1627	c.1627C>T	c.(1627-1629)CTT>TTT	p.L543F	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	543											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATTTGAGCATCTTAATTGGGA	0.418000												
DYNC1H1	1778	broad.mit.edu	37	14	102467528	102467528	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:102467528G>A	uc001yks.2	+	20	4396	c.4232G>A	c.(4231-4233)CGC>CAC	p.R1411H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1411	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTTAAAGACCGCCATTGGAAA	0.428000												
RYR3	6263	broad.mit.edu	37	15	33895329	33895329	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:33895329G>A	uc001zhi.2	+	18	1998	c.1928G>A	c.(1927-1929)CGG>CAG	p.R643Q	RYR3_uc010bar.2_Missense_Mutation_p.R643Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	643	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCAGTATCCGGCCAAACATC	0.517000												
PAK6	56924	broad.mit.edu	37	15	40568171	40568171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:40568171G>A	uc010bbl.2	+	11	2362	c.1922G>A	c.(1921-1923)CGG>CAG	p.R641Q	PAK6_uc010bbm.2_Missense_Mutation_p.R641Q|PAK6_uc001zky.3_Missense_Mutation_p.R596Q|PAK6_uc010bbn.2_Missense_Mutation_p.R641Q|PAK6_uc001zlb.2_Missense_Mutation_p.R641Q	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	641	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ATGCTGGTGCGGGACCCCCAA	0.612000												
MYO5A	4644	broad.mit.edu	37	15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:52622646G>A	uc002aby.2	-	34	4628	c.4384C>T	c.(4384-4386)CGA>TGA	p.R1462*	MYO5A_uc002abx.3_Nonsense_Mutation_p.R1435*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.R184*|MYO5A_uc002abz.1_RNA	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413000												
HERC1	8925	broad.mit.edu	37	15	64017608	64017608	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:64017608G>A	uc002amp.2	-	18	3599	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1151					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCAAGACACCGCCCAATAAGG	0.507000												
LBXCOR1	390598	broad.mit.edu	37	15	68118661	68118661	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:68118661G>A	uc002aqy.1	+	2	468	c.468G>A	c.(466-468)TCG>TCA	p.S156S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	165					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						TGTGCAAGTCGTTCCTGGGCG	0.652000												
CYP1A1	1543	broad.mit.edu	37	15	75013993	75013993	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:75013993G>A	uc002ayp.3	-	3	1013	c.891C>T	c.(889-891)AAC>AAT	p.N297N	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Silent_p.N33N|CYP1A1_uc010bjx.2_Silent_p.N33N|CYP1A1_uc002ayq.3_Silent_p.N297N|CYP1A1_uc010bjy.2_Silent_p.N297N|CYP1A1_uc010bjz.1_Silent_p.N33N	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	297					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGACATTGGCGTTCTCATCCA	0.512000									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia			
ADAMTSL3	57188	broad.mit.edu	37	15	84694085	84694085	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:84694085C>T	uc002bjz.3	+	27	4777	c.4553C>T	c.(4552-4554)ACT>ATT	p.T1518I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T1518I|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T1518I	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1518	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCAATGGAACTGTGCAGGTG	0.537000												
KIAA0430	9665	broad.mit.edu	37	16	15715617	15715617	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:15715617G>T	uc002ddr.2	-	12	2805	c.2612C>A	c.(2611-2613)GCT>GAT	p.A871D	KIAA0430_uc002ddq.2_Missense_Mutation_p.A705D|KIAA0430_uc010uzv.1_Missense_Mutation_p.A867D|KIAA0430_uc010uzw.1_Missense_Mutation_p.A870D	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	870						peroxisome	nucleotide binding|RNA binding				0						TTTGCTGGCAGCCCCGGTGGC	0.398000												
CACNG3	10368	broad.mit.edu	37	16	24372728	24372728	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:24372728C>T	uc002dmf.2	+	4	1692	c.492C>T	c.(490-492)CCC>CCT	p.P164P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	164					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CCGGAGACCCCGGGCAGCGTG	0.458000												
AQP8	343	broad.mit.edu	37	16	25232887	25232887	+	Missense_Mutation	SNP	G	G	A	rs139054676		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:25232887G>A	uc002doc.2	+	3	452	c.370G>A	c.(370-372)GGG>AGG	p.G124R		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	124	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GGGGATGCTCGGGGCTGCCTT	0.632000												
PHKB	5257	broad.mit.edu	37	16	47533780	47533780	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:47533780G>T	uc002eev.3	+	3	332	c.280G>T	c.(280-282)GCC>TCC	p.A94S	PHKB_uc010vgi.1_Missense_Mutation_p.A87S|PHKB_uc002eeu.3_Missense_Mutation_p.A87S	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	94					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGCTGCTGGGGCCTGGGCTTT	0.512000												
ZNF423	23090	broad.mit.edu	37	16	49669760	49669760	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:49669760G>A	uc002efs.2	-	5	3601	c.3303C>T	c.(3301-3303)AAC>AAT	p.N1101N	ZNF423_uc010vgn.1_Silent_p.N984N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1101					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCACCTGTCCGTTGGCGCTGC	0.687000												
C16orf57	79650	broad.mit.edu	37	16	58036513	58036513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:58036513G>A	uc002emz.2	+	2	312	c.229G>A	c.(229-231)GAG>AAG	p.E77K	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.E77K|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.E77K|C16orf57_uc010vic.1_Missense_Mutation_p.E26K	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	77											0						CTTCCCCCACGAGCGAGGCAA	0.587000												
PHLPP2	23035	broad.mit.edu	37	16	71689227	71689227	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:71689227G>A	uc002fax.2	-	16	2507	c.2501C>T	c.(2500-2502)ACG>ATG	p.T834M	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.T767M	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	834	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ATCTGCCATCGTACACTGCAG	0.502000												
DHODH	1723	broad.mit.edu	37	16	72048403	72048403	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:72048403A>G	uc002fbp.2	+	3	287	c.266A>G	c.(265-267)AAT>AGT	p.N89S	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	89	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	AAATTCCGAAATCCAGTAGGA	0.418000												
SDR42E1	93517	broad.mit.edu	37	16	82033056	82033056	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:82033056C>T	uc002fgu.2	-	3	970	c.842G>A	c.(841-843)CGC>CAC	p.R281H		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	281					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						CAATGGCAGGCGGGTAGACGG	0.527000												
IRF8	3394	broad.mit.edu	37	16	85952271	85952271	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:85952271C>T	uc002fjh.2	+	7	907	c.850C>T	c.(850-852)CGG>TGG	p.R284W	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	284					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				GCACAGCAGCCGGCAGGGCGT	0.697000												
DPEP1	1800	broad.mit.edu	37	16	89696881	89696881	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:89696881C>T	uc010cin.2	+	2	266	c.63C>T	c.(61-63)GAC>GAT	p.D21D	DPEP1_uc002fnr.3_Silent_p.D21D|DPEP1_uc002fns.3_Silent_p.D21D	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	21					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TCTTTCGGGACGAGGCAGAGA	0.582000												
TRIM25	7706	broad.mit.edu	37	17	54978813	54978813	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:54978813T>C	uc002iut.2	-	4	1114	c.1054A>G	c.(1054-1056)ATC>GTC	p.I352V	TRIM25_uc010dcj.2_Missense_Mutation_p.I144V	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	352	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					AGCCGCCCGATGCACTGCTTC	0.567000												
DDX42	11325	broad.mit.edu	37	17	61886998	61886998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:61886998C>T	uc002jbu.2	+	12	1488	c.1231C>T	c.(1231-1233)CGA>TGA	p.R411*	DDX42_uc002jbv.2_Nonsense_Mutation_p.R411*|DDX42_uc002jbw.1_Nonsense_Mutation_p.R147*|DDX42_uc002jbx.2_Nonsense_Mutation_p.R147*|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	411	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						TGAAGCAGATCGAATGTTTGA	0.368000												
KCNJ2	3759	broad.mit.edu	37	17	68171214	68171214	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:68171214G>A	uc010dfg.2	+	2	435	c.34G>A	c.(34-36)GTC>ATC	p.V12I	KCNJ2_uc002jir.2_Missense_Mutation_p.V12I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	12	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CTACAGCATCGTCTCTTCAGA	0.517000												
SSTR2	6752	broad.mit.edu	37	17	71166296	71166296	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:71166296G>A	uc002jje.2	+	2	1198	c.838G>A	c.(838-840)GTC>ATC	p.V280I		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	280	Extracellular (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			CGTTTCTTCCGTCTCCATGGC	0.512000												
CEP192	55125	broad.mit.edu	37	18	13056561	13056561	+	Silent	SNP	T	T	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr18:13056561T>A	uc010xac.1	+	19	4052	c.3972T>A	c.(3970-3972)GGT>GGA	p.G1324G	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G849G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.G1065G	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1324										ovary(4)|pancreas(1)	5						GATGGATGGGTACCTCTTCCC	0.478000												
CXXC1	30827	broad.mit.edu	37	18	47810386	47810386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr18:47810386C>T	uc002leq.3	-	10	2024	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E288K|CXXC1_uc002ler.3_Missense_Mutation_p.E435K|CXXC1_uc010doy.2_Missense_Mutation_p.E431K|CXXC1_uc002les.2_Missense_Mutation_p.E431K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	431	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CGAATGCGTTCGAGCAGCTTC	0.592000												
TCF3	6929	broad.mit.edu	37	19	1615407	1615407	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:1615407C>T	uc002ltr.2	-	18	1766	c.1699G>A	c.(1699-1701)GAG>AAG	p.E567K	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.E328K|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.E571K|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	567	Helix-loop-helix motif.				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTAAAGGCCTCGTTGATGTCA	0.642000			T	PBX1|HLF|TFPT	pre B-ALL							
MUC16	94025	broad.mit.edu	37	19	9072872	9072872	+	Silent	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:9072872T>C	uc002mkp.2	-	3	14778	c.14574A>G	c.(14572-14574)ACA>ACG	p.T4858T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4860	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATTTGGAGATGTGACTTTAG	0.433000												
DNM2	1785	broad.mit.edu	37	19	10934546	10934546	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:10934546C>T	uc002mps.1	+	17	2028	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Nonsense_Mutation_p.R622*|DNM2_uc002mpv.1_Nonsense_Mutation_p.R618*|DNM2_uc002mpu.1_Nonsense_Mutation_p.R618*|DNM2_uc010dxl.1_Nonsense_Mutation_p.R622*|DNM2_uc002mpw.2_Nonsense_Mutation_p.R351*|DNM2_uc002mpx.1_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	622	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCGTTCCTCCGAGCTGGCGT	0.662000												
SIGLEC5	8778	broad.mit.edu	37	19	52129341	52129341	+	Missense_Mutation	SNP	C	C	A	rs149285768		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:52129341C>A	uc002pxe.2	-	8	1547	c.1408G>T	c.(1408-1410)GCT>TCT	p.A470S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	470	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGTCTCCCAGCTGCTTGCTTC	0.537000												
ZNF578	147660	broad.mit.edu	37	19	53014774	53014774	+	Silent	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:53014774T>C	uc002pzp.3	+	6	1384	c.1140T>C	c.(1138-1140)TTT>TTC	p.F380F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	155	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCAAGATGTTTGGTCAAAATT	0.378000												
NLRP2	55655	broad.mit.edu	37	19	55494431	55494431	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:55494431G>A	uc002qij.2	+	6	1451	c.1365G>A	c.(1363-1365)GCG>GCA	p.A455A	NLRP2_uc010yfp.1_Silent_p.A432A|NLRP2_uc010esn.2_Silent_p.A431A|NLRP2_uc010eso.2_Silent_p.A452A|NLRP2_uc010esp.2_Silent_p.A433A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	455	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCCTGGCCGCGCAGGGCCTGT	0.701000												
NRXN1	9378	broad.mit.edu	37	2	51254932	51254932	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:51254932C>T	uc010fbq.2	-	2	1957	c.480G>A	c.(478-480)CCG>CCA	p.P160P	NRXN1_uc002rxe.3_Silent_p.P160P|NRXN1_uc002rxd.1_Silent_p.P160P	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCGCAGTTCCGGGGGCAGCC	0.667000												
PCYOX1	51449	broad.mit.edu	37	2	70486655	70486655	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:70486655C>T	uc002sgn.3	+	2	342	c.276C>T	c.(274-276)ATC>ATT	p.I92I	PCYOX1_uc010fdo.2_Silent_p.I15I|PCYOX1_uc010yqu.1_Intron	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	92					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						GTTCTGTCATCCATCCTTTAA	0.473000												
CCT7	10574	broad.mit.edu	37	2	73475031	73475031	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:73475031G>A	uc002siz.2	+	7	862	c.760G>A	c.(760-762)GAG>AAG	p.E254K	CCT7_uc002sja.2_Missense_Mutation_p.E50K|CCT7_uc010yrf.1_Missense_Mutation_p.E210K|CCT7_uc010feu.2_Missense_Mutation_p.E212K|CCT7_uc010yrg.1_Missense_Mutation_p.E154K|CCT7_uc010yrh.1_Missense_Mutation_p.E126K|CCT7_uc010yri.1_Missense_Mutation_p.E167K	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	254					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						AGACAATGCTGAGATAAGAGT	0.493000												
SEMA4F	10505	broad.mit.edu	37	2	74883792	74883792	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:74883792T>C	uc002sna.1	+	2	388	c.277T>C	c.(277-279)TCA>CCA	p.S93P	SEMA4F_uc010ysb.1_Missense_Mutation_p.S93P|SEMA4F_uc010ffq.1_Missense_Mutation_p.S93P|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.S93P	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	93	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCTGCCCTTCTCAGGGGAGAG	0.522000												
CNTNAP5	129684	broad.mit.edu	37	2	125521689	125521689	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:125521689T>G	uc002tno.2	+	16	2859	c.2495T>G	c.(2494-2496)CTT>CGT	p.L832R	CNTNAP5_uc010flu.2_Missense_Mutation_p.L833R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	832	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTAGAAAATCTTGGCATTAAA	0.343000												
LRP1B	53353	broad.mit.edu	37	2	141598508	141598508	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:141598508A>C	uc002tvj.1	-	30	6065	c.5093T>G	c.(5092-5094)CTT>CGT	p.L1698R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1698	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGCTGCAAGACACTGTGG	0.353000										TSP Lung(27;0.18)		
RIF1	55183	broad.mit.edu	37	2	152300221	152300221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:152300221C>T	uc002txm.2	+	18	2114	c.1984C>T	c.(1984-1986)CAG>TAG	p.Q662*	RIF1_uc002txl.2_Nonsense_Mutation_p.Q662*|RIF1_uc010fnv.1_Nonsense_Mutation_p.Q626*|RIF1_uc002txn.2_Nonsense_Mutation_p.Q662*|RIF1_uc002txo.2_Nonsense_Mutation_p.Q662*	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	662					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGATTAATCAGGTATGAAA	0.303000												
TTN	7273	broad.mit.edu	37	2	179416514	179416514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179416514C>T	uc010zfg.1	-	284	83633	c.83409G>A	c.(83407-83409)TGG>TGA	p.W27803*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W21498*|TTN_uc010zfi.1_Nonsense_Mutation_p.W21431*|TTN_uc010zfj.1_Nonsense_Mutation_p.W21306*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28730							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)			TAACTTTTTGCCAGAGGATGC	0.403000												
TTN	7273	broad.mit.edu	37	2	179444697	179444697	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179444697G>A	uc010zfg.1	-	267	59837	c.59613C>T	c.(59611-59613)CCC>CCT	p.P19871P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P13566P|TTN_uc010zfi.1_Silent_p.P13499P|TTN_uc010zfj.1_Silent_p.P13374P|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20798							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)			GAGTTTCACCGGGATCACCAA	0.428000												
TTN	7273	broad.mit.edu	37	2	179581872	179581872	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179581872G>A	uc010zfg.1	-	85	22081	c.21857C>T	c.(21856-21858)GCA>GTA	p.A7286V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3947V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8213							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)			GATGTTGCTTGCATAGCAGGT	0.463000												
ANKRD44	91526	broad.mit.edu	37	2	197990134	197990134	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:197990134C>T	uc002uuc.2	-	6	688	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.R149Q|ANKRD44_uc002uub.2_Missense_Mutation_p.R174Q|ANKRD44_uc010zgw.1_Missense_Mutation_p.R102Q	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	174	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGAGCACGCCGGTCCTTCTT	0.418000												
TRAK2	66008	broad.mit.edu	37	2	202264123	202264123	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:202264123G>C	uc002uyb.3	-	5	903	c.457C>G	c.(457-459)CAA>GAA	p.Q153E	TRAK2_uc002uyc.2_Missense_Mutation_p.Q153E	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	153	Potential.					early endosome|plasma membrane	GABA receptor binding				0						TGTCCCAATTGCTCCTCCAGG	0.413000												
MAP2	4133	broad.mit.edu	37	2	210561031	210561031	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:210561031C>T	uc002vde.1	+	7	4385	c.4137C>T	c.(4135-4137)GAC>GAT	p.D1379D	MAP2_uc002vdc.1_Silent_p.D1379D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.D1375D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1379					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCACCATTGACGACTCCATCA	0.423000												
ABCA12	26154	broad.mit.edu	37	2	215843537	215843537	+	Silent	SNP	G	G	A	rs138215759		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:215843537G>A	uc002vew.2	-	32	5188	c.4968C>T	c.(4966-4968)ACC>ACT	p.T1656T	ABCA12_uc002vev.2_Silent_p.T1338T|ABCA12_uc010zjn.1_Silent_p.T583T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1656					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCTCCTCCACGGTGGTATCTG	0.433000												
ESPNL	339768	broad.mit.edu	37	2	239038920	239038920	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:239038920G>A	uc002vxq.3	+	9	1675	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	ESPNL_uc010fyw.2_Missense_Mutation_p.R218H	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	522	Potential.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTTCGGCGCCGCTGTCAGGAG	0.632000												
ZCCHC3	85364	broad.mit.edu	37	20	279294	279294	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:279294G>A	uc002wdf.2	+	2	1088	c.1064G>A	c.(1063-1065)AGG>AAG	p.R355K	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	356	CCHC-type 2.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AGGTGCTTCAGGTGCGGGGAG	0.617000												
SDCBP2	27111	broad.mit.edu	37	20	1293318	1293318	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:1293318C>T	uc002wev.3	-	6	602	c.473G>A	c.(472-474)CGT>CAT	p.R158H	SDCBP2_uc002weu.3_Missense_Mutation_p.R73H	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	158	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						AGCACAGTCACGCCCGTCAAT	0.612000												
SEL1L2	80343	broad.mit.edu	37	20	13856737	13856737	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:13856737C>T	uc010gcf.2	-	12	1133	c.1051G>A	c.(1051-1053)GTG>ATG	p.V351M	SEL1L2_uc002woq.3_Missense_Mutation_p.V212M|SEL1L2_uc010zrl.1_Missense_Mutation_p.V351M|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	351	Extracellular (Potential).|Sel1-like 6.					integral to membrane	binding			ovary(2)	2						TTTTGCGGCACGGCAGCATTC	0.318000												
L3MBTL	26013	broad.mit.edu	37	20	42164925	42164925	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:42164925A>G	uc010zwh.1	+	18	2094	c.2048A>G	c.(2047-2049)CAT>CGT	p.H683R	L3MBTL_uc002xkl.2_Missense_Mutation_p.H615R|L3MBTL_uc002xkm.2_Missense_Mutation_p.H615R|L3MBTL_uc010ggl.2_Missense_Mutation_p.H620R|L3MBTL_uc002xkn.1_Missense_Mutation_p.H374R|L3MBTL_uc002xko.2_Missense_Mutation_p.H267R	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	615					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGCCTCGCCATCACGGCCGG	0.632000												
SLC12A5	57468	broad.mit.edu	37	20	44666018	44666018	+	Silent	SNP	C	C	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:44666018C>A	uc010zxl.1	+	6	751	c.675C>A	c.(673-675)ATC>ATA	p.I225I	SLC12A5_uc002xra.2_Silent_p.I202I|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.I202I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	225	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCATCGAAATCCTGCTGGTAA	0.438000												
SLC12A5	57468	broad.mit.edu	37	20	44669249	44669249	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:44669249T>G	uc010zxl.1	+	7	995	c.919T>G	c.(919-921)TTC>GTC	p.F307V	SLC12A5_uc002xra.2_Missense_Mutation_p.F284V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.F284V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	307	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCACCCAACTTCCCGTGAGT	0.567000												
EYA2	2139	broad.mit.edu	37	20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:45812032C>T	uc002xsm.2	+	15	1903	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	EYA2_uc010ghp.2_Missense_Mutation_p.A431V|EYA2_uc002xsn.2_Missense_Mutation_p.A515V|EYA2_uc002xso.2_Missense_Mutation_p.A510V|EYA2_uc002xsp.2_Missense_Mutation_p.A510V|EYA2_uc002xsq.2_Missense_Mutation_p.A480V	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	510					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.403000												
GNAS	2778	broad.mit.edu	37	20	57428503	57428503	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:57428503C>T	uc002xzw.2	+	1	468	c.183C>T	c.(181-183)GTC>GTT	p.V61V	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCATCCCCGTCGAGAATGATG	0.637000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
ZNF831	128611	broad.mit.edu	37	20	57766605	57766605	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:57766605C>T	uc002yan.2	+	1	531	c.531C>T	c.(529-531)TGC>TGT	p.C177C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	177	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GTGCCACCTGCGGCATCGCCT	0.632000												
CHRNA4	1137	broad.mit.edu	37	20	61981615	61981615	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:61981615C>T	uc002yes.2	-	5	1326	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	CHRNA4_uc002yet.1_Missense_Mutation_p.R207H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R312H|CHRNA4_uc002yev.1_Missense_Mutation_p.R207H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R207H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	383	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGCCAGAAGCGCGGGGCACT	0.672000												
DSCAM	1826	broad.mit.edu	37	21	41711215	41711215	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr21:41711215C>T	uc002yyq.1	-	7	1790	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	446	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTGAGAATCGGGTCATCGT	0.582000												
TRPM2	7226	broad.mit.edu	37	21	45811283	45811283	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr21:45811283C>T	uc002zet.1	+	12	1782	c.1569C>T	c.(1567-1569)TAC>TAT	p.Y523Y	TRPM2_uc002zeu.1_Silent_p.Y523Y|TRPM2_uc002zew.1_Silent_p.Y523Y|TRPM2_uc010gpt.1_Silent_p.Y523Y|TRPM2_uc002zex.1_Silent_p.Y309Y|TRPM2_uc002zey.1_Silent_p.Y36Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	523	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTACCTGTACGAGAACCTGG	0.522000												
MICAL3	57553	broad.mit.edu	37	22	18300777	18300777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:18300777C>T	uc002zng.3	-	26	5003	c.4650G>A	c.(4648-4650)TGG>TGA	p.W1550*	MICAL3_uc011agl.1_Nonsense_Mutation_p.W1466*|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1550						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CGGGGCGCGGCCAGCAGGACG	0.637000												
GNB1L	54584	broad.mit.edu	37	22	19808157	19808157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:19808157C>T	uc002zqe.1	-	3	612	c.218G>A	c.(217-219)TGG>TAG	p.W73*	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Nonsense_Mutation_p.W73*	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	73	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CGTCTGCAGCCAGGTCACACA	0.642000												
PATZ1	23598	broad.mit.edu	37	22	31741404	31741404	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:31741404C>T	uc003akq.2	-	1	846	c.185G>A	c.(184-186)TGC>TAC	p.C62Y	PATZ1_uc003akp.2_Missense_Mutation_p.C62Y|PATZ1_uc003akr.2_Missense_Mutation_p.C62Y|PATZ1_uc003aks.2_Missense_Mutation_p.C62Y|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	62	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GTACTCGCTGCAGGCGGCCAG	0.692000												
FOXRED2	80020	broad.mit.edu	37	22	36892110	36892110	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:36892110C>T	uc003apn.3	-	6	1636	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I	FOXRED2_uc003apm.3_Missense_Mutation_p.V62I|FOXRED2_uc003apo.3_Missense_Mutation_p.V510I|FOXRED2_uc003app.3_Missense_Mutation_p.V510I	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	510					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						TCAAAGAAGACGTCCTTGTCG	0.527000												
MKL1	57591	broad.mit.edu	37	22	40831511	40831511	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:40831511G>A	uc003ayv.1	-	2	262	c.55C>T	c.(55-57)CGG>TGG	p.R19W	MKL1_uc003ayw.1_Missense_Mutation_p.R19W|MKL1_uc010gye.1_Missense_Mutation_p.R19W|MKL1_uc010gyf.1_Missense_Mutation_p.R19W	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	19	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACCCTGGCCCGCTCCAAGCTC	0.448000			T	RBM15	acute megakaryocytic leukemia							
ZC3H7B	23264	broad.mit.edu	37	22	41726091	41726091	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:41726091C>T	uc003azw.2	+	6	725	c.509C>T	c.(508-510)GCG>GTG	p.A170V	ZC3H7B_uc003azv.1_Missense_Mutation_p.A170V|ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	170					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GTTCGCAAGGCGTATAAGAGG	0.632000												
SBF1	6305	broad.mit.edu	37	22	50904463	50904463	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:50904463G>A	uc003blh.2	-	9	1133	c.938C>T	c.(937-939)ACC>ATC	p.T313I	SBF1_uc011arx.1_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.T314I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	313					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCAGGAATGGTGACCGTCCC	0.617000												
SRGAP3	9901	broad.mit.edu	37	3	9166433	9166433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:9166433C>T	uc003brf.1	-	2	912	c.236G>A	c.(235-237)CGC>CAC	p.R79H	SRGAP3_uc003brg.1_Missense_Mutation_p.R79H|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.R79H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	79	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGGAGCTGCGGATTTTGGA	0.572000			T	RAF1	pilocytic astrocytoma							
KAT2B	8850	broad.mit.edu	37	3	20167554	20167554	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:20167554A>G	uc003cbq.2	+	10	2017	c.1571A>G	c.(1570-1572)CAC>CGC	p.H524R		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	524	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTCCCACCAGCTGCCC	0.448000												
STAB1	23166	broad.mit.edu	37	3	52548194	52548194	+	Missense_Mutation	SNP	C	C	A	rs139838594	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:52548194C>A	uc003dej.2	+	33	3585	c.3511C>A	c.(3511-3513)CGC>AGC	p.R1171S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1171	FAS1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCACCAACCGCTCCCTGGA	0.627000												
OR5K1	26339	broad.mit.edu	37	3	98189089	98189089	+	Silent	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:98189089T>C	uc003dsm.2	+	1	669	c.669T>C	c.(667-669)CTT>CTC	p.L223L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						ATATTCTTCTTACTATTTTCA	0.338000												
DCBLD2	131566	broad.mit.edu	37	3	98541094	98541094	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:98541094C>T	uc003dtd.2	-	6	1171	c.808G>A	c.(808-810)GCT>ACT	p.A270T	DCBLD2_uc003dte.2_Missense_Mutation_p.A270T	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	270	Extracellular (Potential).|LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						ACGTTGTTAGCCAAAGAACTT	0.393000												
BBX	56987	broad.mit.edu	37	3	107492466	107492466	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:107492466G>A	uc010hpr.2	+	11	2225	c.1898G>A	c.(1897-1899)CGA>CAA	p.R633Q	BBX_uc003dwk.3_Missense_Mutation_p.R633Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.R654Q|BBX_uc003dwm.3_Missense_Mutation_p.R633Q|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCTCTCTGCGAGCTAATGTT	0.403000												
MYH15	22989	broad.mit.edu	37	3	108117566	108117566	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:108117566T>C	uc003dxa.1	-	36	5168	c.5111A>G	c.(5110-5112)CAA>CGA	p.Q1704R		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1704	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TGTCTGCTCTTGCAGGGACCT	0.522000												
STXBP5L	9515	broad.mit.edu	37	3	120673881	120673881	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:120673881G>A	uc003eec.3	+	3	424	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	STXBP5L_uc011bji.1_Missense_Mutation_p.R95Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95	WD 1.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GGTGCTATACGAATGTATCCT	0.358000												
IGSF10	285313	broad.mit.edu	37	3	151164474	151164474	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:151164474A>G	uc011bod.1	-	4	3295	c.3295T>C	c.(3295-3297)TCA>CCA	p.S1099P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1099					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACTCTTCTGATGGGACTCTA	0.463000												
CHRD	8646	broad.mit.edu	37	3	184102983	184102983	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:184102983C>T	uc003fov.2	+	14	2021	c.1775C>T	c.(1774-1776)ACG>ATG	p.T592M	CHRD_uc003fow.2_Missense_Mutation_p.T222M|CHRD_uc003fox.2_Missense_Mutation_p.T592M|CHRD_uc003foy.2_Missense_Mutation_p.T222M|CHRD_uc010hyc.2_Missense_Mutation_p.T182M|CHRD_uc011brr.1_Missense_Mutation_p.T222M	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	592	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCCTGGAACGCCAGGGCCT	0.562000												
MUC4	4585	broad.mit.edu	37	3	195479288	195479288	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:195479288G>A	uc011bto.1	-	22	15614	c.15154C>T	c.(15154-15156)CTC>TTC	p.L5052F	MUC4_uc010hzq.2_Missense_Mutation_p.L37F|MUC4_uc003fuz.2_Missense_Mutation_p.L778F|MUC4_uc003fva.2_Missense_Mutation_p.L660F|MUC4_uc003fvb.2_Missense_Mutation_p.L696F|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.L696F|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.L660F|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.L744F|MUC4_uc011bti.1_Missense_Mutation_p.L744F|MUC4_uc011btj.1_Missense_Mutation_p.L921F|MUC4_uc011btk.1_Missense_Mutation_p.L660F|MUC4_uc011btl.1_Missense_Mutation_p.L689F|MUC4_uc011btm.1_Missense_Mutation_p.L869F|MUC4_uc011btn.1_Missense_Mutation_p.L660F|MUC4_uc003fvo.2_Missense_Mutation_p.L944F|MUC4_uc003fvp.2_Missense_Mutation_p.L893F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1937					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTTCACTGAGCAAGAGCTGG	0.567000												
ACOX3	8310	broad.mit.edu	37	4	8398823	8398823	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:8398823C>T	uc010idk.2	-	9	1042	c.897G>A	c.(895-897)GCG>GCA	p.A299A	ACOX3_uc003glc.3_Silent_p.A299A|ACOX3_uc003gld.3_Silent_p.A299A|ACOX3_uc003gle.1_Silent_p.A204A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	299					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TCCCCAGGGACGCTCCAAAGC	0.642000												
EPHA5	2044	broad.mit.edu	37	4	66286260	66286260	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:66286260T>C	uc003hcy.2	-	6	1619	c.1426A>G	c.(1426-1428)AAA>GAA	p.K476E	EPHA5_uc003hcx.2_Missense_Mutation_p.K407E|EPHA5_uc003hcz.2_Missense_Mutation_p.K476E|EPHA5_uc011cah.1_Missense_Mutation_p.K476E|EPHA5_uc011cai.1_Missense_Mutation_p.K476E|EPHA5_uc003hda.2_Missense_Mutation_p.K476E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	476	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTCCCTTTTTTCACATTGGTG	0.343000										TSP Lung(17;0.13)		
FAT4	79633	broad.mit.edu	37	4	126355435	126355435	+	Missense_Mutation	SNP	G	G	A	rs147151922	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:126355435G>A	uc003ifj.3	+	7	7054	c.7054G>A	c.(7054-7056)GTC>ATC	p.V2352I	FAT4_uc011cgp.1_Missense_Mutation_p.V650I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2352	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AACAATCAACGTCATAGTAGA	0.343000												
PCDH10	57575	broad.mit.edu	37	4	134071538	134071538	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:134071538C>T	uc003iha.2	+	1	1069	c.243C>T	c.(241-243)CGC>CGT	p.R81R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R81R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	81	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAATAGACCGCGAACAAATCT	0.562000												
DNAH5	1767	broad.mit.edu	37	5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:13829731C>T	uc003jfd.2	-	38	6374	c.6332G>A	c.(6331-6333)CGT>CAT	p.R2111H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2111	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GATAATCTGACGGTCAGGCAC	0.463000									Kartagener_syndrome			
CDH12	1010	broad.mit.edu	37	5	21765106	21765106	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:21765106T>C	uc010iuc.2	-	9	1954	c.1496A>G	c.(1495-1497)GAA>GGA	p.E499G	CDH12_uc011cno.1_Missense_Mutation_p.E459G|CDH12_uc003jgk.2_Missense_Mutation_p.E499G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	499	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CTTGGCATTTTCACACACGGC	0.358000										HNSCC(59;0.17)		
PCDHA8	56140	broad.mit.edu	37	5	140222280	140222280	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140222280C>T	uc003lhs.2	+	1	1374	c.1374C>T	c.(1372-1374)CCC>CCT	p.P458P	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_uc003lhr.1_Silent_p.P458P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	458	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACGG	0.672000												
PCDHB16	57717	broad.mit.edu	37	5	140564268	140564268	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140564268C>T	uc003liv.2	+	1	3289	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682000												
PCDHGA12	26025	broad.mit.edu	37	5	140812194	140812194	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140812194C>T	uc003lkt.1	+	1	2037	c.1868C>T	c.(1867-1869)ACG>ATG	p.T623M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T623M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTGCACACGGGCGAGGTG	0.692000												
ATP10B	23120	broad.mit.edu	37	5	159992888	159992888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:159992888G>A	uc003lym.1	-	26	4805	c.3958C>T	c.(3958-3960)CAA>TAA	p.Q1320*	ATP10B_uc010jit.1_Nonsense_Mutation_p.Q570*	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1320	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGTTCCTTGCAGAGACAGG	0.383000												
NKAPL	222698	broad.mit.edu	37	6	28227351	28227351	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:28227351C>T	uc003nkt.2	+	1	254	c.202C>T	c.(202-204)CGC>TGC	p.R68C	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	68										upper_aerodigestive_tract(1)|ovary(1)	2						CCCCTTTAGTCGCTCTGGGTC	0.612000												
HTR1E	3354	broad.mit.edu	37	6	87725622	87725622	+	Silent	SNP	G	G	A	rs140545385	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:87725622G>A	uc003pli.2	+	2	1273	c.570G>A	c.(568-570)GCG>GCA	p.A190A		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	190	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CGCTGGGTGCGTTTTATATCC	0.512000												
ECHDC1	55862	broad.mit.edu	37	6	127648195	127648195	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:127648195G>C	uc003qax.2	-	3	369	c.333C>G	c.(331-333)TTC>TTG	p.F111L	ECHDC1_uc003qaz.3_Missense_Mutation_p.F105L|ECHDC1_uc010key.2_Missense_Mutation_p.F30L|ECHDC1_uc003qay.3_Missense_Mutation_p.F105L|ECHDC1_uc010kez.2_Missense_Mutation_p.F30L|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	111							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		ATCCTGAAGAGAAAGTATTTT	0.383000												
SYNE1	23345	broad.mit.edu	37	6	152631626	152631626	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:152631626T>G	uc010kiw.2	-	89	17526	c.16924A>C	c.(16924-16926)AAA>CAA	p.K5642Q	SYNE1_uc010kiv.2_Missense_Mutation_p.K166Q|SYNE1_uc003qos.3_Missense_Mutation_p.K166Q|SYNE1_uc003qot.3_Missense_Mutation_p.K5571Q|SYNE1_uc003qou.3_Missense_Mutation_p.K5642Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5642	Spectrin 18.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTAACTTTTTCAACTCTGCT	0.428000										HNSCC(10;0.0054)		
RNF216	54476	broad.mit.edu	37	7	5769126	5769126	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:5769126G>A	uc003soy.1	-	7	1345	c.1155C>T	c.(1153-1155)CTC>CTT	p.L385L	RNF216_uc010ksz.1_Silent_p.L7L|RNF216_uc010kta.1_Silent_p.L7L|RNF216_uc011jwj.1_Silent_p.L7L|RNF216_uc003sox.1_Silent_p.L442L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	385					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTGACTACTGAGCACTTTGA	0.493000												
EIF2AK1	27102	broad.mit.edu	37	7	6066556	6066556	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:6066556G>A	uc003spp.2	-	14	1713	c.1567C>T	c.(1567-1569)CTC>TTC	p.L523F	EIF2AK1_uc003spq.2_Missense_Mutation_p.L522F|EIF2AK1_uc011jwm.1_Missense_Mutation_p.L399F	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	523	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGCTGAAAGAGCTCTAGCAGG	0.443000												
HOXA9	3205	broad.mit.edu	37	7	27204564	27204564	+	Silent	SNP	G	G	A	rs138291525		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:27204564G>A	uc003syt.2	-	1	586	c.513C>T	c.(511-513)AGC>AGT	p.S171S		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	171							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						AGGCGCCTTCGCTGGGTTGTT	0.552000			T	NUP98|MSI2	AML*							
GLI3	2737	broad.mit.edu	37	7	42088263	42088263	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:42088263G>A	uc011kbh.1	-	5	597	c.506C>T	c.(505-507)CCG>CTG	p.P169L	GLI3_uc011kbg.1_Missense_Mutation_p.P110L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	169			P -> L (in a colorectal cancer sample; somatic mutation).		negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P169L(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGCAGGTCCGGATACGTAGG	0.527000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
CHCHD2	51142	broad.mit.edu	37	7	56170694	56170694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:56170694C>T	uc003tsa.2	-	3	392	c.311G>A	c.(310-312)GGA>GAA	p.G104E	PSPH_uc003trj.2_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain	104						mitochondrion					0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGCTGGGTTCCCTGAGGCTC	0.473000												
GRM8	2918	broad.mit.edu	37	7	126086219	126086219	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:126086219C>T	uc003vlr.2	-	9	2949	c.2638G>A	c.(2638-2640)GAG>AAG	p.E880K	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E880K|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	880	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTTTCACCTCGCCATTTGGT	0.453000										HNSCC(24;0.065)		
CHRM2	1129	broad.mit.edu	37	7	136700439	136700439	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:136700439A>G	uc003vtf.1	+	4	1450	c.827A>G	c.(826-828)CAG>CGG	p.Q276R	CHRM2_uc003vtg.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtj.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtk.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtl.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtm.1_Missense_Mutation_p.Q276R|CHRM2_uc003vti.1_Missense_Mutation_p.Q276R|CHRM2_uc003vto.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtn.1_Missense_Mutation_p.Q276R|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	276	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AACTGTGTTCAGGGAGAGGAG	0.483000												
UBN2	254048	broad.mit.edu	37	7	138968977	138968977	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:138968977C>T	uc011kqr.1	+	15	3326	c.3326C>T	c.(3325-3327)CCA>CTA	p.P1109L		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1109	Ser-rich.									ovary(1)|skin(1)	2						ACTAACAGCCCAGTCCATAAA	0.483000												
DLGAP2	9228	broad.mit.edu	37	8	1626467	1626467	+	Silent	SNP	G	G	A	rs149482724	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:1626467G>A	uc003wpl.2	+	9	2233	c.2136G>A	c.(2134-2136)ACG>ACA	p.T712T	DLGAP2_uc003wpm.2_Silent_p.T698T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACATCACCACGGAGGACAAAG	0.622000												
SOX7	83595	broad.mit.edu	37	8	10584132	10584132	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:10584132C>T	uc003wtf.2	-	2	362	c.283G>A	c.(283-285)GTG>ATG	p.V95M	SOX7_uc011kwz.1_Missense_Mutation_p.V147M|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	95	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GCCTCGTCCACGTACGGCCTC	0.632000												
PRKDC	5591	broad.mit.edu	37	8	48842451	48842451	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:48842451T>C	uc003xqi.2	-	18	2071	c.2014A>G	c.(2014-2016)ATT>GTT	p.I672V	PRKDC_uc003xqj.2_Missense_Mutation_p.I672V|PRKDC_uc011ldh.1_Missense_Mutation_p.I672V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	672					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTACTGTAATAGAAAGCAAT	0.328000								NHEJ				
PXDNL	137902	broad.mit.edu	37	8	52370223	52370223	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:52370223A>G	uc003xqu.3	-	9	918	c.817T>C	c.(817-819)TCA>CCA	p.S273P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	273	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAATCCAATGAGTGGCTGGAA	0.353000												
PREX2	80243	broad.mit.edu	37	8	68864659	68864659	+	Silent	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:68864659C>T	uc003xxv.1	+	1	57	c.30C>T	c.(28-30)CGC>CGT	p.R10R	PREX2_uc003xxu.1_Silent_p.R10R|PREX2_uc011lez.1_Silent_p.R10R|PREX2_uc003xxt.2_Silent_p.R10R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	10					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						GAGACAGCCGCGCCGAGAGCG	0.632000												
SULF1	23213	broad.mit.edu	37	8	70515528	70515528	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:70515528T>C	uc010lza.1	+	11	1880	c.1163T>C	c.(1162-1164)CTT>CCT	p.L388P	SULF1_uc003xyd.2_Missense_Mutation_p.L388P|SULF1_uc003xye.2_Missense_Mutation_p.L388P|SULF1_uc003xyf.2_Missense_Mutation_p.L388P|SULF1_uc003xyg.2_Missense_Mutation_p.L388P|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	388					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTCCTCAAACTTCTGGACCCA	0.557000												
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478000										HNSCC(12;0.0054)		
WDR67	93594	broad.mit.edu	37	8	124096454	124096454	+	Silent	SNP	G	G	A	rs146436284		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:124096454G>A	uc003ypp.1	+	4	483	c.393G>A	c.(391-393)TCG>TCA	p.S131S	WDR67_uc011lig.1_Silent_p.S131S|WDR67_uc011lih.1_Silent_p.S21S|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Silent_p.S131S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	131	WD 2.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGTATTTTCGATCTCTGTGC	0.393000												
KIAA0196	9897	broad.mit.edu	37	8	126056089	126056089	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:126056089G>A	uc003yrt.2	-	23	3157	c.2828C>T	c.(2827-2829)GCG>GTG	p.A943V	KIAA0196_uc011lir.1_Missense_Mutation_p.A795V|KIAA0196_uc003yru.1_Missense_Mutation_p.A517V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	943					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCGAGATACGCAGTCCAAAT	0.303000												
COL22A1	169044	broad.mit.edu	37	8	139890073	139890073	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:139890073T>C	uc003yvd.2	-	3	1025	c.578A>G	c.(577-579)AAG>AGG	p.K193R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	193	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGGGCGGACTTGGGCTCTGA	0.672000										HNSCC(7;0.00092)		
GPR20	2843	broad.mit.edu	37	8	142367371	142367371	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:142367371C>T	uc003ywf.2	-	2	742	c.653G>A	c.(652-654)CGC>CAC	p.R218H		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	218	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACACATGATGCGGCCGGTAAA	0.662000												
NAPRT1	93100	broad.mit.edu	37	8	144659014	144659014	+	Splice_Site	SNP	T	T	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:144659014T>A	uc003yym.3	-	6	710	c.685_splice	c.e6-1	p.M229_splice	NAPRT1_uc003yyn.3_Splice_Site_p.M229_splice|NAPRT1_uc011lkh.1_Splice_Site_p.M229_splice|NAPRT1_uc003yyo.3_Splice_Site_p.M229_splice	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain						nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCCAACATCTGTGGAACAGA	0.642000												
ROR2	4920	broad.mit.edu	37	9	94493380	94493380	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:94493380T>A	uc004arj.1	-	7	1194	c.995A>T	c.(994-996)AAG>ATG	p.K332M	ROR2_uc004ari.1_Missense_Mutation_p.K192M|ROR2_uc004ark.2_Missense_Mutation_p.K332M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	332	Extracellular (Potential).|Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GTGGCCTGACTTGGTGGTGCT	0.592000												
CERCAM	51148	broad.mit.edu	37	9	131193480	131193480	+	Silent	SNP	C	C	T	rs59813556	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:131193480C>T	uc004buz.3	+	9	1499	c.1101C>T	c.(1099-1101)CTC>CTT	p.L367L	CERCAM_uc004buy.1_Silent_p.L289L|CERCAM_uc010mxz.2_Silent_p.L289L|CERCAM_uc010mya.1_Silent_p.L208L	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	367					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCAGGAACCTCGGCGTAGACC	0.652000												
BARHL1	56751	broad.mit.edu	37	9	135458231	135458231	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:135458231G>A	uc004cbp.1	+	1	239	c.47G>A	c.(46-48)CGC>CAC	p.R16H		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CTCTCCCACCGCGCGGGCAGC	0.662000												
C9orf116	138162	broad.mit.edu	37	9	138387363	138387363	+	Silent	SNP	G	G	A	rs150939171		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:138387363G>A	uc004cft.1	-	3	385	c.321C>T	c.(319-321)ATC>ATT	p.I107I	C9orf116_uc004cfs.1_Missense_Mutation_p.S92L|C9orf116_uc004cfu.1_RNA	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	107											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGCCAGTCACGATGCTTTTCT	0.468000												
KLHL34	257240	broad.mit.edu	37	X	21675868	21675868	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:21675868G>A	uc004czz.1	-	1	581	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	13										ovary(1)	1						TGAGCAGCGCGCCGCCATGAG	0.662000												
NAP1L3	4675	broad.mit.edu	37	X	92926799	92926799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:92926799T>C	uc004efq.2	-	1	1810	c.1505A>G	c.(1504-1506)AAG>AGG	p.K502R	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTGTATTTCTTGTTTCCATA	0.318000												
KIAA1210	57481	broad.mit.edu	37	X	118239097	118239097	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:118239097C>T	uc004era.3	-	7	926	c.926G>A	c.(925-927)CGC>CAC	p.R309H		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	309										ovary(4)|skin(1)	5						TCGGCGTCGGCGCGATGGTGG	0.413000												
GPR112	139378	broad.mit.edu	37	X	135430104	135430104	+	Silent	SNP	T	T	G			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:135430104T>G	uc004ezu.1	+	6	4530	c.4239T>G	c.(4237-4239)ACT>ACG	p.T1413T	GPR112_uc010nsb.1_Silent_p.T1208T|GPR112_uc010nsc.1_Silent_p.T1180T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1413	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GCCAGGATACTTCATTTGTAG	0.428000												
UBL4A	8266	broad.mit.edu	37	X	153713953	153713953	+	Silent	SNP	G	G	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:153713953G>A	uc004flo.2	-	4	408	c.399C>T	c.(397-399)GAC>GAT	p.D133D		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	133					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTCGATGTCGTCCAGCGTCA	0.592000												
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:7576927_7576927CT>C	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TTGGGCAGTGCTAGGAAAGAG	0.493		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)		
TRAF3IP1	26146	broad.mit.edu	37	2	239237701	239237702	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:239237701_239237702delAC	uc002vye.2	+	5	752_753	c.633_634delAC	c.(631-636)AGACACfs	p.R211fs	TRAF3IP1_uc002vyf.2_Frame_Shift_Del_p.R211fs	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	211_212	Abolishes microtubules-binding when missing.|Arg-rich.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gcggaaacagacacagagaagg	0.000												
GMPS	8833	broad.mit.edu	37	3	155640046	155640046	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:155640046delC	uc003faq.2	+	11	1724	c.1389delC	c.(1387-1389)AACfs	p.N463fs	GMPS_uc011bom.1_Frame_Shift_Del_p.N364fs	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	463					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAAACCAACAATATTTTGA	0.299			T	MLL	AML							
REV3L	5980	broad.mit.edu	37	6	111688796	111688797	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:111688795_111688796T>TA	uc003puy.4	-	13	6536_6537	c.6195_6196A>TA	c.(6193-6198)cataccfs	p.H2065fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.H1987fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.H1987fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2065					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCTCCTTGGTATGTGCTGTAG	0.446								DNA polymerases (catalytic subunits)				
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:7576927_7576927CT>C	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TTGGGCAGTGCTAGGAAAGAG	0.493		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)