Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372584.1	-	7	7244	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687000													3	43					0	0	0.004672	0	0
PCDHA4	0	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1												p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000													7	84					0	0	0.029380	0	0
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383000													5	122					0.000602214	0.000789109	0.014758	1	0
PCDHA3	0	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R	NM_018906.2	NP_061729.1												p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557000													7	346					0	0	0.069234	0	0
IL2RB	0	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662000													5	73					0	0	0.029380	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													5	29					0	0	0.080935	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	93					0	0	0.004672	0	0
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.492_splice	c.e5+1	p.M164_splice		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483000													5	155					0	0	0.038147	0	0
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557000													4	94					0	0	0.009096	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1																						TGGGCAACAGCGAGGGAAATG	0.502000													4	84					0	0	0.009096	0	0
RDH10	157506	broad.mit.edu	37	8	74235228	74235228	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383000													6	43					0	0	0.038147	0	0
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr18:3188882C>T	ENST00000400569.3	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K			P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517000													6	108					0	0	0.058154	0	0
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642000													5	106					0	0	0.021553	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537000													4	67					0.00024832	0.000337006	0.009096	1	0
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000368172.1	+	3	287	c.275G>T	c.(274-276)gGa>gTa	p.G92V	KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	253					1.12685e-05	1.58594e-05	0.047766	1	0
KCTD19	146212	broad.mit.edu	37	16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473000													15	253					0	0	0.024245	0	0
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517000													3	63					0	0	0.004672	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:41978662G>A	ENST00000372584.1	-	7	7244	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687000													3	43					0	0	0.004672	0	0
PCDHA4	0	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1												p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000													7	84					0	0	0.029380	0	0
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383000													5	122					0.000602214	0.000729957	0.014758	1	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													4	34					0	0	0.009096	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	56					0	0	0.009096	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													12	33					0	0	0.033300	0	0
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.492_splice	c.e5+1	p.M164_splice		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483000													5	155					0	0	0.038147	0	0
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557000													4	94					0	0	0.009096	0	0
IL2RB	0	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662000													5	73					0	0	0.029380	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	93					0	0	0.004672	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1																						TGGGCAACAGCGAGGGAAATG	0.502000													4	84					0	0	0.009096	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537000													4	67					0.00024832	0.0003104	0.009096	1	0
PTCH2	8643	broad.mit.edu	37	1	45296670	45296670	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:45296670C>T	ENST00000447098.2	-	6	674	c.663G>A	c.(661-663)ctG>ctA	p.L221L	PTCH2_ENST00000372192.3_Silent_p.L221L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	221					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCTCCTCCAGCAGCTGCTCTG	0.632000									Basal Cell Nevus syndrome				7	41					0	0	0.038147	0	0
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642000													5	106					0	0	0.021553	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	42					0	0	0.014758	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	51					0	0	0.014758	0	0
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:158057909G>T	ENST00000368172.1	+	3	287	c.275G>T	c.(274-276)gGa>gTa	p.G92V	KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	253					1.12685e-05	1.454e-05	0.047766	1	0
KCTD19	146212	broad.mit.edu	37	16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473000													15	253					0	0	0.024245	0	0
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517000													3	63					0	0	0.004672	0	0
TAF11	6882	broad.mit.edu	37	6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T	rs139408667		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:34846380_34846381insT	ENST00000361288.4	-	5	753_754	c.622_623insA	c.(622-624)catfs	p.H208fs	TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTGC	0.421													7	135	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													7	169	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	7	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)del	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	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)		TGgccggagccggagtcggagtcaga	0.660													4	8	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													5	6	---	---	---	---					
