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
EPHB2	2048	broad.mit.edu	37	1	23234547	23234547	+	Silent	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:23234547C>T	uc009vqj.1	+	12	2383	c.2238C>T	c.(2236-2238)GAC>GAT	p.D746D	EPHB2_uc001bge.2_Silent_p.D747D|EPHB2_uc001bgf.2_Silent_p.D746D|EPHB2_uc010odu.1_Silent_p.D688D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	746	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCACCGTGACCTGGCTGCCC	0.562000									Hereditary_Prostate_Cancer			
RABGGTB	5876	broad.mit.edu	37	1	76257946	76257946	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:76257946T>A	uc001dgy.1	+	7	731	c.660T>A	c.(658-660)TGT>TGA	p.C220*	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Nonsense_Mutation_p.C174*|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	220	PFTB 5.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						GGTGGCTTTGTGAACGACAAT	0.413000												
ABCD3	5825	broad.mit.edu	37	1	94964197	94964197	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:94964197G>A	uc001dqn.3	+	17	1528	c.1426G>A	c.(1426-1428)GGC>AGC	p.G476S	ABCD3_uc010oto.1_Missense_Mutation_p.G500S|ABCD3_uc010otp.1_Missense_Mutation_p.G403S|ABCD3_uc009wdr.2_Missense_Mutation_p.G366S|ABCD3_uc001dqo.3_Missense_Mutation_p.G164S	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	476	ATP (Potential).|ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGGTCCAAATGGCTGCGGAAA	0.348000												
FLG2	388698	broad.mit.edu	37	1	152327123	152327123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:152327123G>A	uc001ezw.3	-	3	3212	c.3139C>T	c.(3139-3141)CAG>TAG	p.Q1047*	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1047	Filaggrin 3.|Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGGACTGATCTGAGCCT	0.488000												
SERPINC1	462	broad.mit.edu	37	1	173876592	173876592	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:173876592A>C	uc001gjt.2	-	6	1333	c.1214T>G	c.(1213-1215)CTT>CGT	p.L405R		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	405					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACTCACCTCAAGAAATGCCTT	0.483000												
SLC35F3	148641	broad.mit.edu	37	1	234458881	234458881	+	Silent	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:234458881C>G	uc001hwa.1	+	7	1386	c.1158C>G	c.(1156-1158)CTC>CTG	p.L386L	SLC35F3_uc001hvy.1_Silent_p.L455L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	386					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAAGCTGCTCACCCGACTCA	0.587000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RYR2	6262	broad.mit.edu	37	1	237586400	237586400	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:237586400G>T	uc001hyl.1	+	12	977	c.857G>T	c.(856-858)GGA>GTA	p.G286V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	286	Cytoplasmic (By similarity).|MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTGGAGTGGAAGCCACATA	0.413000												
OR2G2	81470	broad.mit.edu	37	1	247751887	247751887	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:247751887T>G	uc010pyy.1	+	1	226	c.226T>G	c.(226-228)TTC>GTC	p.F76V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTACCGCTGCTTCACCAGCAG	0.483000												
OR2W3	343171	broad.mit.edu	37	1	248059821	248059821	+	Silent	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:248059821A>G	uc001idp.1	+	3	1202	c.933A>G	c.(931-933)CTA>CTG	p.L311L	OR2W3_uc010pzb.1_Silent_p.L311L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGAGAGCTAGGAAAGGAGT	0.537000												
CDHR1	92211	broad.mit.edu	37	10	85968592	85968592	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:85968592C>A	uc001kcv.2	+	12	1275	c.1275C>A	c.(1273-1275)AAC>AAA	p.N425K	CDHR1_uc001kcw.2_Missense_Mutation_p.N425K|CDHR1_uc009xst.2_Missense_Mutation_p.N184K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	425	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TTGTGGAGAACTCAGCTGCCA	0.493000												
RNLS	55328	broad.mit.edu	37	10	90342921	90342921	+	Silent	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:90342921G>A	uc001kfe.2	-	1	162	c.27C>T	c.(25-27)GCC>GCT	p.A9A	RNLS_uc010qms.1_Silent_p.A9A|RNLS_uc001kfd.2_Silent_p.A9A	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	9						extracellular region	oxidoreductase activity			ovary(1)	1						CTGTCATCCCGGCGCCCACGA	0.667000											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC147	159686	broad.mit.edu	37	10	106124545	106124545	+	Silent	SNP	C	C	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:106124545C>A	uc001kyh.2	+	4	629	c.495C>A	c.(493-495)CTC>CTA	p.L165L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	165	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGACCAGCTCTTATCAGAAG	0.453000												
TACC2	10579	broad.mit.edu	37	10	123842259	123842259	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:123842259A>G	uc001lfv.2	+	4	604	c.244A>G	c.(244-246)AAG>GAG	p.K82E	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.K82E|TACC2_uc010qtv.1_Missense_Mutation_p.K82E	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	82						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAGCCAAGGAAGGACCCACA	0.632000												
OR52L1	338751	broad.mit.edu	37	11	6007312	6007312	+	Silent	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:6007312A>G	uc001mcd.2	-	1	904	c.849T>C	c.(847-849)GGT>GGC	p.G283G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	283	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACATGATGACCAAAGCGGT	0.493000												
LRRC55	219527	broad.mit.edu	37	11	56954951	56954951	+	Silent	SNP	C	C	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:56954951C>A	uc001njl.1	+	2	1170	c.1023C>A	c.(1021-1023)ATC>ATA	p.I341I	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	311						integral to membrane					0						AGGAAGAGATCTGACATGCCT	0.607000												
TIMM10	26519	broad.mit.edu	37	11	57296266	57296266	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:57296266C>T	uc001nkm.1	-	3	344	c.197G>A	c.(196-198)GGC>GAC	p.G66D		NM_012456	NP_036588	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						CAACTTTTTGCCCATCCGCTC	0.542000												
CTNND1	1500	broad.mit.edu	37	11	57573377	57573377	+	Silent	SNP	T	T	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:57573377T>A	uc001nmc.3	+	10	2317	c.1746T>A	c.(1744-1746)CTT>CTA	p.L582L	CTNND1_uc001nlh.1_Silent_p.L582L|CTNND1_uc001nlu.3_Silent_p.L481L|CTNND1_uc001nlt.3_Silent_p.L481L|CTNND1_uc001nls.3_Silent_p.L481L|CTNND1_uc001nlw.3_Silent_p.L481L|CTNND1_uc001nmf.3_Silent_p.L582L|CTNND1_uc001nmd.3_Silent_p.L528L|CTNND1_uc001nlk.3_Silent_p.L528L|CTNND1_uc001nme.3_Silent_p.L582L|CTNND1_uc001nll.3_Silent_p.L528L|CTNND1_uc001nmg.3_Silent_p.L528L|CTNND1_uc001nlj.3_Silent_p.L528L|CTNND1_uc001nlr.3_Silent_p.L528L|CTNND1_uc001nlp.3_Silent_p.L528L|CTNND1_uc001nlx.3_Silent_p.L259L|CTNND1_uc001nlz.3_Silent_p.L259L|CTNND1_uc009ymn.2_Silent_p.L259L|CTNND1_uc001nlm.3_Silent_p.L582L|CTNND1_uc001nly.3_Silent_p.L259L|CTNND1_uc001nmb.3_Silent_p.L259L|CTNND1_uc001nma.3_Silent_p.L259L|CTNND1_uc001nmi.3_Silent_p.L481L|CTNND1_uc001nmh.3_Silent_p.L582L|CTNND1_uc001nlq.3_Silent_p.L481L|CTNND1_uc001nln.3_Silent_p.L582L|CTNND1_uc001nli.3_Silent_p.L582L|CTNND1_uc001nlo.3_Silent_p.L481L|CTNND1_uc001nlv.3_Silent_p.L481L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	582					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GTGTTTGCCTTCTTCGGAACT	0.458000												
OR2AT4	341152	broad.mit.edu	37	11	74800481	74800481	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:74800481C>T	uc010rro.1	-	1	278	c.278G>A	c.(277-279)GGG>GAG	p.G93E		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGCGGTCCCCAAGCAAGAA	0.478000												
ROBO3	64221	broad.mit.edu	37	11	124739005	124739005	+	Silent	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:124739005C>T	uc001qbc.2	+	2	660	c.468C>T	c.(466-468)AAC>AAT	p.N156N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	156	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGAGCAGAAACGCCTCGCTGG	0.652000												
SNX19	399979	broad.mit.edu	37	11	130784675	130784675	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:130784675A>G	uc001qgk.3	-	1	1708	c.1160T>C	c.(1159-1161)CTC>CCC	p.L387P	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.L387P|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	387					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGAGTCATGAGCATGATGGT	0.512000												
CACNA2D4	93589	broad.mit.edu	37	12	1992095	1992095	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:1992095G>A	uc001qjp.2	-	13	1654	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R363C	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	475	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCATGGGGCGGCTGAGCACG	0.622000												
VWF	7450	broad.mit.edu	37	12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:6080794G>A	uc001qnn.1	-	44	7769	c.7519C>T	c.(7519-7521)CGG>TGG	p.R2507W	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2507	Cell attachment site.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612000												
KRT73	319101	broad.mit.edu	37	12	53007513	53007513	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:53007513G>A	uc001sas.2	-	5	978	c.943C>T	c.(943-945)CGG>TGG	p.R315W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	315	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTTCCGGGCGATCTCC	0.592000												
POLR3B	55703	broad.mit.edu	37	12	106786900	106786900	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:106786900G>T	uc001tlp.2	+	10	1037	c.815G>T	c.(814-816)TGC>TTC	p.C272F	POLR3B_uc001tlq.2_Missense_Mutation_p.C214F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	272					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						CTGGAAGAGTGCCAGAAAGCT	0.468000												
TMEM119	338773	broad.mit.edu	37	12	108985737	108985737	+	Silent	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:108985737A>G	uc001tng.2	-	2	586	c.423T>C	c.(421-423)AGT>AGC	p.S141S	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	141	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						cggcccggTCACTCTGGTCCA	0.552000												
PIWIL1	9271	broad.mit.edu	37	12	130834487	130834487	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:130834487T>C	uc001uik.2	+	9	1109	c.1019T>C	c.(1018-1020)GTC>GCC	p.V340A	PIWIL1_uc001uij.1_Missense_Mutation_p.V340A	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	340	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGCTCTGAAGTCAGCTTCTTA	0.413000												
ZNF268	10795	broad.mit.edu	37	12	133764473	133764473	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:133764473G>C	uc010tcf.1	+	3	379	c.49G>C	c.(49-51)GAA>CAA	p.E17Q	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.E17Q	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCTCCAAGAACGAAACAG	0.483000												
BRCA2	675	broad.mit.edu	37	13	32911048	32911048	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:32911048C>G	uc001uub.1	+	11	2783	c.2556C>G	c.(2554-2556)AAC>AAG	p.N852K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	852	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACAATTCAACCAAAACACAA	0.318000			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
VPS36	51028	broad.mit.edu	37	13	53016581	53016581	+	Splice_Site	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:53016581C>G	uc001vgs.2	-	2	131	c.97_splice	c.e2-1	p.I33_splice	VPS36_uc001vgq.2_Splice_Site	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CAAATTTTATCTAGAAAGAAA	0.323000												
PCDH17	27253	broad.mit.edu	37	13	58208916	58208916	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:58208916G>A	uc001vhq.1	+	1	3128	c.2236G>A	c.(2236-2238)GAG>AAG	p.E746K	PCDH17_uc010aec.1_Missense_Mutation_p.E746K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	746	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCATCGCCGAGTACAGCCA	0.557000												
NFATC4	4776	broad.mit.edu	37	14	24845524	24845524	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr14:24845524C>T	uc001wpc.2	+	9	2402	c.2081C>T	c.(2080-2082)CCG>CTG	p.P694L	NFATC4_uc010tok.1_Missense_Mutation_p.P757L|NFATC4_uc010tol.1_Missense_Mutation_p.P757L|NFATC4_uc010alr.2_Missense_Mutation_p.P757L|NFATC4_uc010tom.1_Missense_Mutation_p.P707L|NFATC4_uc010ton.1_Missense_Mutation_p.P707L|NFATC4_uc010too.1_Missense_Mutation_p.P707L|NFATC4_uc010alt.2_Missense_Mutation_p.P726L|NFATC4_uc010top.1_Missense_Mutation_p.P726L|NFATC4_uc010toq.1_Missense_Mutation_p.P726L|NFATC4_uc010tor.1_Missense_Mutation_p.P694L|NFATC4_uc010tos.1_Missense_Mutation_p.P624L|NFATC4_uc010tot.1_Missense_Mutation_p.P682L|NFATC4_uc010tou.1_Missense_Mutation_p.P624L|NFATC4_uc010tov.1_Missense_Mutation_p.P682L|NFATC4_uc010tow.1_Missense_Mutation_p.P624L|NFATC4_uc010alv.2_Missense_Mutation_p.P682L|NFATC4_uc010tox.1_Missense_Mutation_p.P624L|NFATC4_uc001wpd.2_Missense_Mutation_p.P229L|NFATC4_uc010toy.1_Missense_Mutation_p.P229L|NFATC4_uc010toz.1_Missense_Mutation_p.P229L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	694					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GAGCCCCTACCGGACTCATCT	0.597000												
KCNK13	56659	broad.mit.edu	37	14	90650473	90650473	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr14:90650473C>T	uc001xye.1	+	2	795	c.353C>T	c.(352-354)CCG>CTG	p.P118L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	118						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				ATGACAACTCCGGCGACAGTA	0.483000												
TMEM202	338949	broad.mit.edu	37	15	72699483	72699483	+	Missense_Mutation	SNP	A	A	G	rs142013465	byFrequency	TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr15:72699483A>G	uc002auq.2	+	4	544	c.544A>G	c.(544-546)AGG>GGG	p.R182G	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	182						integral to membrane				central_nervous_system(1)|skin(1)	2						CTGGCATACTAGGGATGCCAT	0.483000												
SH3GL3	6457	broad.mit.edu	37	15	84245455	84245455	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr15:84245455T>G	uc002bjw.2	+	6	781	c.586T>G	c.(586-588)TTG>GTG	p.L196V	SH3GL3_uc010uot.1_Missense_Mutation_p.L196V|SH3GL3_uc002bjx.2_Missense_Mutation_p.L127V|SH3GL3_uc002bju.2_Missense_Mutation_p.L204V|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	196	BAR.|Potential.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GTCAAAGGAGTTGGCTGAAAG	0.338000												
TERF2IP	54386	broad.mit.edu	37	16	75681861	75681861	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr16:75681861C>G	uc002fet.1	+	1	178	c.81C>G	c.(79-81)AGC>AGG	p.S27R	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	27					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						ACGACGGCAGCTCCATGTCCT	0.672000												
PELP1	27043	broad.mit.edu	37	17	4577819	4577819	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:4577819G>A	uc002fyi.3	-	13	1794	c.1568C>T	c.(1567-1569)GCG>GTG	p.A523V	PELP1_uc010vsf.1_Missense_Mutation_p.A376V	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	523					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAGTGCAGCCGCACACACGTC	0.617000												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CD300LF	146722	broad.mit.edu	37	17	72708985	72708985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:72708985G>T	uc002jlg.2	-	1	124	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlh.2_Nonsense_Mutation_p.Y7*|CD300LF_uc002jli.2_5'UTR|CD300LF_uc010wra.1_Nonsense_Mutation_p.Y7*	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	7						integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						AGAGGAGCAGGTAGAGTGTCA	0.597000												
NLRP12	91662	broad.mit.edu	37	19	54313731	54313731	+	Silent	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:54313731G>A	uc002qch.3	-	3	1402	c.1182C>T	c.(1180-1182)AAC>AAT	p.N394N	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.N394N|NLRP12_uc002qcj.3_Silent_p.N394N|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.N394N	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	394	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAGAGGCTCGTTGTCCCTCA	0.557000												
APOB	338	broad.mit.edu	37	2	21225842	21225842	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:21225842A>G	uc002red.2	-	29	12580	c.12452T>C	c.(12451-12453)CTG>CCG	p.L4151P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4151					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTGGTACAGATTCTGGGC	0.502000												
KCNH7	90134	broad.mit.edu	37	2	163230084	163230084	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:163230084C>A	uc002uch.1	-	15	3432	c.3220G>T	c.(3220-3222)GTA>TTA	p.V1074L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1074	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CCTGCTGTTACCATACTGTAG	0.488000												
XIRP2	129446	broad.mit.edu	37	2	168108443	168108443	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:168108443C>G	uc002udx.2	+	8	10559	c.10541C>G	c.(10540-10542)TCT>TGT	p.S3514C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S3339C|XIRP2_uc010fpq.2_Missense_Mutation_p.S3292C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3339					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAGAGGAATCTGCATTTATA	0.398000												
TTN	7273	broad.mit.edu	37	2	179443626	179443626	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:179443626C>T	uc010zfg.1	-	269	60651	c.60427G>A	c.(60427-60429)GGC>AGC	p.G20143S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13838S|TTN_uc010zfi.1_Missense_Mutation_p.G13771S|TTN_uc010zfj.1_Missense_Mutation_p.G13646S|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21070							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)			TATTCCATGCCCTCATGAAGT	0.468000												
EPHA4	2043	broad.mit.edu	37	2	222320295	222320295	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:222320295G>A	uc002vmq.2	-	8	1729	c.1687C>T	c.(1687-1689)CTC>TTC	p.L563F	EPHA4_uc002vmr.2_Missense_Mutation_p.L563F|EPHA4_uc010zlm.1_Missense_Mutation_p.L504F|EPHA4_uc010zln.1_Missense_Mutation_p.L563F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	563	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTGCAATGAGAATTACCACC	0.522000												
DOCK10	55619	broad.mit.edu	37	2	225639637	225639637	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:225639637G>A	uc010fwz.1	-	52	6237	c.5998C>T	c.(5998-6000)CGG>TGG	p.R2000W	DOCK10_uc002vob.2_Missense_Mutation_p.R1994W|DOCK10_uc002voa.2_Missense_Mutation_p.R656W	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2000	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGATCGTCCGCCGCTTGCAC	0.567000												
DOCK10	55619	broad.mit.edu	37	2	225661722	225661722	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:225661722C>G	uc010fwz.1	-	43	5025	c.4786G>C	c.(4786-4788)GAA>CAA	p.E1596Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1590Q|DOCK10_uc002voa.2_Missense_Mutation_p.E252Q|DOCK10_uc002voc.2_Missense_Mutation_p.E450Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1596	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTTAAATTCAAAATTCTTC	0.403000												
CDH22	64405	broad.mit.edu	37	20	44845476	44845476	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr20:44845476C>T	uc002xrm.2	-	4	1228	c.827G>A	c.(826-828)CGT>CAT	p.R276H	CDH22_uc010ghk.1_Missense_Mutation_p.R276H|CDH22_uc002xrn.1_Missense_Mutation_p.R27H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	276	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTGCGGGAAACGGGGCGGGTT	0.612000												
RHOA	387	broad.mit.edu	37	3	49405953	49405953	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr3:49405953C>T	uc003cwu.2	-	3	461	c.185G>A	c.(184-186)GGG>GAG	p.G62E	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	62	GTP (By similarity).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCTTCCTGCCCAGCTGTGTC	0.473000												
CCKAR	886	broad.mit.edu	37	4	26483296	26483296	+	Silent	SNP	C	C	T	rs79677636		TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr4:26483296C>T	uc003gse.1	-	5	1404	c.1251G>A	c.(1249-1251)TCG>TCA	p.S417S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	417	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TATGGCTGTACGAGAACCTGG	0.532000												
SMR3B	10879	broad.mit.edu	37	4	71255426	71255426	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr4:71255426C>T	uc011cas.1	+	3	182	c.101C>T	c.(100-102)CCG>CTG	p.P34L	SMR3B_uc003hfh.2_Missense_Mutation_p.P34L	NM_006685	NP_006676	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3	34	Pro-rich.					extracellular space				skin(1)	1		all_hematologic(202;0.196)				CCACCTGGACCGCTGGCTCCT	0.502000												
GCNT4	51301	broad.mit.edu	37	5	74325257	74325257	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:74325257T>A	uc003kdn.2	-	1	1468	c.606A>T	c.(604-606)AGA>AGT	p.R202S		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	202	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CAGCCTGGAGTCTGGAAATGT	0.403000												
OTP	23440	broad.mit.edu	37	5	76932916	76932916	+	Silent	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:76932916G>A	uc003kfg.2	-	2	325	c.177C>T	c.(175-177)CCC>CCT	p.P59P		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGTCCTCCCCGGGCAGCAGAG	0.726000												
PCDHGA8	9708	broad.mit.edu	37	5	140773983	140773983	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:140773983A>G	uc003lkd.1	+	1	2501	c.1603A>G	c.(1603-1605)AGC>GGC	p.S535G	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_uc003lkb.3_Missense_Mutation_p.S535G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACAGCCAGCGACAGCGG	0.587000												
CPEB4	80315	broad.mit.edu	37	5	173376580	173376580	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:173376580A>G	uc003mcs.3	+	6	2932	c.1526A>G	c.(1525-1527)AAA>AGA	p.K509R	CPEB4_uc010jju.1_Missense_Mutation_p.K484R|CPEB4_uc010jjv.2_Missense_Mutation_p.K492R|CPEB4_uc011dfg.1_Missense_Mutation_p.K484R|CPEB4_uc003mct.3_Missense_Mutation_p.K119R|CPEB4_uc003mcu.3_Missense_Mutation_p.K102R	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	509	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGAGAGCAAATCCTATTTT	0.338000												
HRH2	3274	broad.mit.edu	37	5	175110886	175110886	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:175110886A>G	uc003mdd.2	+	1	2423	c.650A>G	c.(649-651)AAT>AGT	p.N217S	HRH2_uc003mdc.3_Missense_Mutation_p.N217S	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	217	Cytoplasmic (Potential).		N -> D.		G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AAGAGGATCAATCACATTAGC	0.572000												
HDGFL1	154150	broad.mit.edu	37	6	22570002	22570002	+	Silent	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:22570002C>T	uc003nds.2	+	1	325	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	66											0	Ovarian(93;0.163)					AGGAGAAGTTCGGCAAGCCCA	0.612000												
HIST1H1B	3009	broad.mit.edu	37	6	27834888	27834888	+	Silent	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:27834888C>T	uc003njx.2	-	1	472	c.420G>A	c.(418-420)AAG>AAA	p.K140K		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	140					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTGGCCTTCTTAGGCGTGG	0.607000												
APOM	55937	broad.mit.edu	37	6	31625241	31625241	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:31625241G>A	uc003nvl.2	+	4	501	c.428G>A	c.(427-429)CGC>CAC	p.R143H	APOM_uc003nvk.2_Missense_Mutation_p.R71H	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	143		Fatty acid.			cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						GGTTACCAGCGCTTTCTCCTC	0.562000												
CRISP2	7180	broad.mit.edu	37	6	49667600	49667600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:49667600C>T	uc003ozq.2	-	6	444	c.188G>A	c.(187-189)TGG>TAG	p.W63*	CRISP2_uc003ozl.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozn.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozr.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozo.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozm.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozp.2_Nonsense_Mutation_p.W63*	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	63						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTCTCTGCTCCATTCCTAAAC	0.284000												
LRRC1	55227	broad.mit.edu	37	6	53706991	53706991	+	Silent	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:53706991C>T	uc003pcd.1	+	2	520	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	81	LRR 3.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TAGCAAACTTCATGCAGCTGG	0.403000												
C6orf174	387104	broad.mit.edu	37	6	127836184	127836184	+	Silent	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:127836184G>A	uc003qbd.2	-	3	1975	c.1110C>T	c.(1108-1110)ATC>ATT	p.I370I		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	370	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCAGCTCATCGATCTCGTTCT	0.537000												
SLC22A1	6580	broad.mit.edu	37	6	160555103	160555103	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:160555103G>A	uc003qtc.2	+	4	890	c.785G>A	c.(784-786)CGC>CAC	p.R262H	SLC22A1_uc003qtd.2_Missense_Mutation_p.R262H	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	262	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTCACTGGCGCTGGCTGCAG	0.677000												
ATP5J2	9551	broad.mit.edu	37	7	99056877	99056877	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr7:99056877C>T	uc003uqm.2	-	3	193	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	PTCD1_uc011kiw.1_Intron|ATP5J2_uc003uql.2_Missense_Mutation_p.R44Q|ATP5J2_uc003uqn.2_Intron|ATP5J2_uc003uqo.2_Intron	NM_004889	NP_004880	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	50					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)				ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTTGTAGTACCGGTAGTAACC	0.507000											OREG0018190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR6B1	135946	broad.mit.edu	37	7	143701159	143701159	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr7:143701159C>T	uc003wdt.1	+	1	70	c.70C>T	c.(70-72)CGG>TGG	p.R24W		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					CTTGAGTATGCGGGCAGCCAT	0.502000												
NRG1	3084	broad.mit.edu	37	8	32621813	32621813	+	Missense_Mutation	SNP	C	C	T	rs147189312	byFrequency	TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:32621813C>T	uc003xiv.2	+	12	2333	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.R611C|NRG1_uc003xiw.2_Missense_Mutation_p.R603C|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.R348C|NRG1_uc010lvs.2_Missense_Mutation_p.R348C|NRG1_uc010lvp.2_Missense_Mutation_p.R560C|NRG1_uc010lvq.2_Missense_Mutation_p.R543C|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.R449C|NRG1_uc003xja.2_Missense_Mutation_p.R417C	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	606	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACCTGCCTTCCGCCTGGCTGA	0.537000												
HNF4G	3174	broad.mit.edu	37	8	76471222	76471222	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:76471222T>A	uc003yaq.2	+	9	1202	c.932T>A	c.(931-933)CTT>CAT	p.L311H	HNF4G_uc003yar.2_Missense_Mutation_p.L348H	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	311					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTGTTAAACTTTTTGGGATG	0.393000												
TATDN1	83940	broad.mit.edu	37	8	125528240	125528240	+	Silent	SNP	A	A	C			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:125528240A>C	uc003yrd.2	-	5	276	c.234T>G	c.(232-234)CCT>CCG	p.P78P	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Silent_p.P31P|TATDN1_uc003yrf.2_Silent_p.P78P	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	78						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACATCTTGTAGGATGACATC	0.294000												
DMD	1756	broad.mit.edu	37	X	32429956	32429956	+	Silent	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:32429956G>A	uc004dda.1	-	30	4390	c.4146C>T	c.(4144-4146)ATC>ATT	p.I1382I	DMD_uc004dcw.2_Silent_p.I38I|DMD_uc004dcx.2_Silent_p.I41I|DMD_uc004dcz.2_Silent_p.I1259I|DMD_uc004dcy.1_Silent_p.I1378I|DMD_uc004ddb.1_Silent_p.I1374I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1382					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGACTCCTGGATTAAGTGTA	0.463000												
OPHN1	4983	broad.mit.edu	37	X	67273626	67273626	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:67273626G>A	uc004dww.3	-	22	2479	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	OPHN1_uc011mpg.1_Missense_Mutation_p.R621W	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	729	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CCTGGAGGCCGCACTTTGCTG	0.547000												
USP26	83844	broad.mit.edu	37	X	132161318	132161318	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:132161318G>C	uc010nrm.1	-	6	1401	c.931C>G	c.(931-933)CAG>GAG	p.Q311E	USP26_uc011mvf.1_Missense_Mutation_p.Q311E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAGAGACTGTAACACTGCA	0.383000												
RGS2	5997	broad.mit.edu	37	1	192779562	192779563	+	Splice_Site	INS	-	-	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563insT	uc001gsl.2	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2						cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						GCCAGCAAATGTAAGTTAACTC	0.495												
RGS2	5997	broad.mit.edu	37	1	192779563	192779564	+	Splice_Site	INS	-	-	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563G>GT	uc001gsl.3	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	92	Necessary to inhibit protein synthesis.|RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCAGCAAATGTAAGTTAACTC	0.495												
RGS2	5997	broad.mit.edu	37	1	192779562	192779563	+	Splice_Site	INS	-	-	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563insT	uc001gsl.2	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2						cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						GCCAGCAAATGTAAGTTAACTC	0.495												
COL5A3	50509	broad.mit.edu	37	19	10077045	10077046	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:10077045_10077046insA	uc002mmq.1	-	64	4812_4813	c.4726_4727insT	c.(4726-4728)TGCfs	p.C1576fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1576	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CGTGAAGTTGCAAAAAACCCTG	0.604												
RGS2	5997	broad.mit.edu	37	1	192779563	192779564	+	Splice_Site	INS	-	-	T			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563G>GT	uc001gsl.3	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	92	Necessary to inhibit protein synthesis.|RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCAGCAAATGTAAGTTAACTC	0.495												
COL5A3	50509	broad.mit.edu	37	19	10077046	10077047	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:10077045_10077046C>CA	uc002mmq.1	-	63	4812_4813	c.4726_4727G>TG	c.(4726-4728)tgcfs	p.C1576fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1576	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGTGAAGTTGCAAAAAACCCTG	0.604