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
IL20RB	53833	broad.mit.edu	37	3	136701146	136701146	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:136701146G>A	ENST00000329582.4	+	3	609	c.360G>A	c.(358-360)caG>caA	p.Q120Q	IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Silent_p.Q73Q	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	120	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGGCTCACAGACCTCAGCCT	0.532000													3	35					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69672525	69672525	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:69672525C>T	ENST00000374355.3	+	1	371	c.54C>T	c.(52-54)tcC>tcT	p.S18S	DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GCTTGGGCTCCGCCTCCGCTT	0.701000													5	2					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288796	62288796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:62288796C>G	ENST00000378024.4	-	5	13367	c.13093G>C	c.(13093-13095)Gat>Cat	p.D4365H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4365					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTTTTGCATCTGGACCTTCG	0.483000													48	128					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16338329	16338329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:16338329C>T	ENST00000400202.1	-	3	2897	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	NRIP1_ENST00000400199.1_Missense_Mutation_p.E729K|NRIP1_ENST00000318948.4_Missense_Mutation_p.E729K			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	729					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGAGTTTTCTCTTTTTTTTCA	0.413000													67	37					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24118748	24118748	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:24118748T>A	ENST00000238789.5	-	2	652	c.309A>T	c.(307-309)aaA>aaT	p.K103N		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	103							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATTTTGATTTGTCTTTGC	0.398000													40	20					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036071	39036071	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:39036071G>A	ENST00000167588.3	-	5	953	c.912C>T	c.(910-912)ctC>ctT	p.L304L		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	304	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTACCATGCTGAGATGGGACT	0.413000													30	49					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5792611	5792611	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:5792611C>G	ENST00000425013.2	-	3	292		c.e3-1		RNF216_ENST00000389902.3_Splice_Site	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGATCCACTCTACAGGAAAG	0.488000													11	38					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145160364	145160364	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:145160364C>T	ENST00000367545.3	+	71	10121	c.10121C>T	c.(10120-10122)tCt>tTt	p.S3374F	UTRN_ENST00000367526.4_Missense_Mutation_p.S929F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3374					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTCAGCATTCTGCACTGAGC	0.522000													23	51					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6208929	6208929	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:6208929G>A	ENST00000262450.3	-	9	1467	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	456	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCGCGGGCAGAGCCATTCAC	0.721000													40	35					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97870580	97870580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:97870580G>C	ENST00000542604.1	-	6	658	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	TECPR1_ENST00000379795.3_Intron|TECPR1_ENST00000447648.2_Intron			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	220						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGGACACAGCACCTGCATC	0.637000											OREG0018181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77275802	77275802	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:77275802G>A	ENST00000341514.6	+	13	2843	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.Q818Q	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	896					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCATTAACCAGAACGGGTCAC	0.448000													74	11					0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170118987	170118987	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:170118987C>T	ENST00000339209.4	-	3	345	c.222G>A	c.(220-222)ttG>ttA	p.L74L	PHF10_ENST00000366780.4_Silent_p.L74L|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	74					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGTACTCTATCAAGTTTTCTG	0.308000													16	42					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10478965	10478965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:10478965G>C	ENST00000538557.1	+	11	1397	c.1153G>C	c.(1153-1155)Gct>Cct	p.A385P	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Missense_Mutation_p.A398P|PGD_ENST00000541529.1_Missense_Mutation_p.A376P			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	398					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTTTAAGTCAGCTGTTGAAAA	0.438000													19	146					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189456507	189456507	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:189456507G>C	ENST00000264731.3	+	3	357	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	TP63_ENST00000440651.2_Missense_Mutation_p.E90Q|TP63_ENST00000392460.3_Missense_Mutation_p.E90Q|TP63_ENST00000418709.2_Missense_Mutation_p.E90Q|TP63_ENST00000320472.5_Missense_Mutation_p.E90Q|TP63_ENST00000382063.4_Missense_Mutation_p.E90Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	90	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AAACAAGATTGAGATTAGCAT	0.468000										HNSCC(45;0.13)			12	32					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108247667	108247667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:108247667C>G	ENST00000370056.4	-	16	1793	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H	VAV3_ENST00000527011.1_Missense_Mutation_p.D507H|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.D442H	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	507					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCTGCATAGTCTGGTCTTATG	0.388000													5	55					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35545337	35545337	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:35545337G>A	ENST00000353139.5	-	39	5137	c.4656C>T	c.(4654-4656)atC>atT	p.I1552I	ACACA_ENST00000394406.2_Silent_p.I1515I|ACACA_ENST00000360679.3_Silent_p.I1457I|ACACA_ENST00000335166.5_Silent_p.I1437I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1515					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCGAATGTTGATTTTCAGTT	0.493000													40	46					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118104205	118104205	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:118104205C>T	ENST00000525386.1	-	2	159	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	MPZL3_ENST00000527472.1_Silent_p.A205A|MPZL3_ENST00000278949.4_Silent_p.A217A			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	0	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CACAAAGCCTCGCCATACACG	0.478000													16	17					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40728861	40728861	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:40728861C>T	ENST00000298910.7	+	40	5908	c.5850C>T	c.(5848-5850)gcC>gcT	p.A1950A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1950	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGAGTTAGCCTCCAAGGGTT	0.542000													10	101					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52505468	52505468	+	Nonsense_Mutation	SNP	G	G	T	rs112120821		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:52505468G>T	ENST00000261839.7	-	34	4219	c.4058C>A	c.(4057-4059)tCg>tAg	p.S1353*		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1353						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCTGAGGACGAGTGCACATC	0.468000													23	52					4.7796e-09	4.92941e-09	1	1	0
METTL24	728464	broad.mit.edu	37	6	110567454	110567454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:110567454G>A	ENST00000338882.4	-	5	795	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	266						extracellular region											TCTGCCTTGAGAACGTCAATC	0.368000													8	25					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657670	100657670	+	Splice_Site	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:100657670T>C	ENST00000416321.1	-	2	161	c.159A>G	c.(157-159)ggA>ggG	p.G53G		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	53					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GACCAGAGCATCCTGAAAAAA	0.338000													10	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469870	179469870	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:179469870C>T	ENST00000589042.1	-	280	54258	c.54034G>A	c.(54034-54036)Gat>Aat	p.D18012N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9139N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15444N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8947N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9072N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16371N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16371	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGTGCATCAGTGGGTTTT	0.473000													7	75					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220330660	220330660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:220330660C>T	ENST00000358951.2	-	31	3623	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1169					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GAGAAAACCTCATGACTGCAT	0.478000													11	16					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53513540	53513540	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:53513540T>G	ENST00000488965.1	+	3	184	c.137T>G	c.(136-138)cTg>cGg	p.L46R	SCP2_ENST00000435345.2_Silent_p.A89A|SCP2_ENST00000371509.4_Silent_p.A449A|SCP2_ENST00000407246.2_Silent_p.A469A|SCP2_ENST00000430330.2_Silent_p.A86A|SCP2_ENST00000408941.3_Missense_Mutation_p.L46R|SCP2_ENST00000528311.1_Silent_p.A412A|SCP2_ENST00000371514.3_Silent_p.A493A			P22307	NLTP_HUMAN	sterol carrier protein 2	0					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ATAAGAAGGCTGACTGCACAA	0.413000													44	31					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922739	17922739	+	Silent	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:17922739G>T	ENST00000318683.6	+	3	1074	c.927G>T	c.(925-927)ctG>ctT	p.L309L	B3GNT3_ENST00000595387.1_Silent_p.L309L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	309					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTGAGGGACTGAAGCCTGCCT	0.632000													34	80					4.34311e-12	4.52652e-12	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126073338	126073338	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:126073338G>T	ENST00000318410.7	-	12	1856	c.1507C>A	c.(1507-1509)Caa>Aaa	p.Q503K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.Q355K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	503					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCCAAAGCTTGTATCAGTTGT	0.388000													25	48					1.77063e-15	1.85943e-15	1	1	0
PRODH	5625	broad.mit.edu	37	22	18918670	18918670	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:18918670G>A	ENST00000357068.6	-	2	580	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PRODH_ENST00000420436.1_5'UTR|PRODH_ENST00000334029.2_5'UTR	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	105					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TGAGCTTGTTGAATAGCCTCT	0.547000													11	30					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671467	49671467	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:49671467G>C	ENST00000561648.1	-	4	1649	c.1596C>G	c.(1594-1596)ctC>ctG	p.L532L	ZNF423_ENST00000562871.1_Silent_p.L472L|ZNF423_ENST00000535559.1_Silent_p.L415L|ZNF423_ENST00000563137.2_Silent_p.L472L|ZNF423_ENST00000262383.2_Silent_p.L532L|ZNF423_ENST00000567169.1_Silent_p.L415L|ZNF423_ENST00000562520.1_Silent_p.L472L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	532					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTGCTCGGTGAGGGAGGACT	0.592000													9	30					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836925	43836925	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:43836925G>A	ENST00000372781.3	+	2	1044	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCAAAAACAGATAACAATTC	0.403000													16	57					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77317612	77317612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:77317612G>A	ENST00000388914.3	-	3	250	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CCDC158_ENST00000434846.2_Missense_Mutation_p.S33F|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	33										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACCACGAATAGATGACACAAA	0.328000													11	33					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4834045	4834045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:4834045G>C	ENST00000268231.8	-	5	662	c.399C>G	c.(397-399)atC>atG	p.I133M	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	133					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTGCTCGTTGATGTAGCCCA	0.622000													8	68					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726900	39726900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:39726900G>C	ENST00000395670.3	-	19	2916	c.2497C>G	c.(2497-2499)Ctt>Gtt	p.L833V	KIF21A_ENST00000361961.3_Missense_Mutation_p.L820V|KIF21A_ENST00000361418.5_Missense_Mutation_p.L833V|KIF21A_ENST00000541463.2_Missense_Mutation_p.L797V|KIF21A_ENST00000544797.2_Missense_Mutation_p.L820V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	833					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L820V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCCGACGAAGAGCCGTAACC	0.448000													14	90					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179322394	179322394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:179322394C>T	ENST00000476781.1	-	1	48	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	MRPL47_ENST00000392659.2_5'UTR|MRPL47_ENST00000259038.2_Missense_Mutation_p.A7T	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	7					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CAAAGAAGGGCCAAACCGGCC	0.527000													27	53					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061589	12061589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:12061589C>T	ENST00000053243.1	+	3	658	c.440C>T	c.(439-441)cCa>cTa	p.P147L	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.P98L|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	147					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTTCCACTCCCAGCTATGGAG	0.502000			T	IL2	intestinal T-cell lymphoma								18	125					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141738409	141738409	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:141738409G>C	ENST00000475668.2	+	19	2364	c.2310G>C	c.(2308-2310)ctG>ctC	p.L770L	MGAM_ENST00000549489.2_Silent_p.L770L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	770	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCAGTTCTGGATGAAGTAA	0.493000													4	9					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343692	36343692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:36343692C>T	ENST00000339796.5	-	3	1108	c.263G>A	c.(262-264)tGc>tAc	p.C88Y	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.C88Y|ETV7_ENST00000373737.4_Missense_Mutation_p.C88Y	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	88	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GGTGAGGATGCAGAGGGCGCG	0.647000													4	71					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813558	106813558	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:106813558C>T	ENST00000407775.2	+	8	1498	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.T147T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T284T|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.T284T|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	416					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTTATTGACCAGAAGCGAAC	0.498000													15	22					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926236	106926236	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:106926236C>T	ENST00000434710.1	-	0	385																											TCAGACTGTTCATTTGCAGAT	0.478000													4	165					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900649	151900649	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:151900649C>T	ENST00000393900.3	-	3	505	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.R51Q|MAGEA12_ENST00000393869.3_Missense_Mutation_p.R51Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	51										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCACCTCCCGCAGGGTGAC	0.617000													42	7					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28195820	28195820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:28195820C>T	ENST00000302326.4	-	1	1666	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	238							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAGGGCGCCTCGCCCGGGTAA	0.637000			T	ETV6	"""AML, meningioma"""								3	3					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9841879	9841879	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:9841879G>C	ENST00000397261.3	+	3	697	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	ARPC4_ENST00000433034.1_Missense_Mutation_p.E64Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E45Q|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000498623.2_5'UTR	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GAGTAGCAAAGAGCTCCTGTT	0.473000													5	16					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459609	49459609	+	Splice_Site	SNP	C	C	G	rs146726612		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:49459609C>G	ENST00000374201.3	-	2	453	c.151G>C	c.(151-153)Gat>Cat	p.D51H	FRMPD2_ENST00000407470.4_Splice_Site_p.D42H|FRMPD2_ENST00000305531.3_Splice_Site_p.D49H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	51	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACTCTCTTACCGTTGCGGAGG	0.547000													8	38					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124058540	124058540	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:124058540A>G	ENST00000368994.2	+	9	936	c.685A>G	c.(685-687)Acc>Gcc	p.T229A	BTBD16_ENST00000260723.4_Missense_Mutation_p.T228A			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	228										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GCAGCTCACCACCGGCTGCGA	0.532000											OREG0020592	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170162547	170162547	+	Silent	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:170162547T>C	ENST00000588451.1	+	9	1015	c.502T>C	c.(502-504)Ttg>Ctg	p.L168L	ERMARD_ENST00000366772.2_Silent_p.L294L|ERMARD_ENST00000366773.3_Silent_p.L294L|ERMARD_ENST00000418781.3_Silent_p.L294L|ERMARD_ENST00000392095.4_Silent_p.L168L					ER membrane-associated RNA degradation	294																	CGCCATATTGTTGCTGACACA	0.403000													44	73					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													28	18					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161135064	161135064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:161135064C>G	ENST00000348849.3	-	11	1487	c.1057G>C	c.(1057-1059)Gga>Cga	p.G353R	RBMS1_ENST00000409972.1_Missense_Mutation_p.G317R|RBMS1_ENST00000392753.3_Missense_Mutation_p.G366R|RBMS1_ENST00000409075.1_Missense_Mutation_p.G317R|RBMS1_ENST00000409289.2_Missense_Mutation_p.G317R|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	353					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CCTACTGTTCCGGTGCTGCCT	0.473000											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	23					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216532	26216532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:26216532C>G	ENST00000244601.3	-	1	340	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTACCTTCGGACACTGCG	0.532000													21	35					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474375	78474375	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:78474375T>C	ENST00000258873.4	-	8	1212	c.1007A>G	c.(1006-1008)tAc>tGc	p.Y336C	ACSBG1_ENST00000560817.1_Missense_Mutation_p.Y94C|ACSBG1_ENST00000541759.1_Missense_Mutation_p.Y94C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	336					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCACAGGTCGTAGATCTGGGC	0.642000													18	16					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482893	71482893	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:71482893G>A	ENST00000393539.2	-	6	1848	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.F287F|ZNF23_ENST00000564528.1_Silent_p.F287F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Silent_p.F345F|ZNF23_ENST00000357254.4_Silent_p.F345F|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGCTGCACCTGAAGCCTTTTC	0.403000													16	38					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757009	56757009	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:56757009G>A	ENST00000326855.2	+	1	663	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GATCTAACTTGATATTCACTG	0.403000													33	92					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32671885	32671885	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:32671885G>A	ENST00000537469.1	+	2	460	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.R58Q	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	58										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCAGGCCGCGATTCCTCCCA	0.597000													36	23					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736161	16736161	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:16736161C>G	ENST00000335496.1	-	6	1004	c.522G>C	c.(520-522)ctG>ctC	p.L174L	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.L151L	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	174							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCTCCAGCCCAGGTCCAGGG	0.701000													12	4					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520419	179520419	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:179520419C>T	ENST00000367615.4	-	8	1109	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.L279L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	347					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ACAGGCAATTCAGTAGGTCAA	0.507000													94	34					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43571819	43571819	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:43571819G>C	ENST00000372813.3	-	7	1013	c.861C>G	c.(859-861)ctC>ctG	p.L287L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	287					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CAATCTGTAGGAGGTTGCTGA	0.517000													11	62					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145693290	145693290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:145693290G>A	ENST00000301332.2	+	7	1107	c.730G>A	c.(730-732)Gag>Aag	p.E244K	KIFC2_ENST00000301331.5_5'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	244	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCTGGAGAACGAGGCCCTGAA	0.657000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17981180	17981180	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:17981180C>G	ENST00000361221.3	+	23	2603	c.2444C>G	c.(2443-2445)tCa>tGa	p.S815*	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Nonsense_Mutation_p.S776*|ARHGEF10L_ENST00000375415.1_Nonsense_Mutation_p.S776*|ARHGEF10L_ENST00000434513.1_Nonsense_Mutation_p.S810*|ARHGEF10L_ENST00000167825.4_Nonsense_Mutation_p.S518*|ARHGEF10L_ENST00000375408.3_Nonsense_Mutation_p.S588*	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	815					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGGGTTTCTCAGCAGTCAGC	0.602000													16	148					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013470	142013470	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:142013470C>T	ENST00000390357.3	+	0	354																											AGCCCTGTATCTCTGCGCCAG	0.587000													48	54					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816166	71816166	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:71816166G>A	ENST00000580087.1	+	1	409	c.123G>A	c.(121-123)ttG>ttA	p.L41L	TIMM21_ENST00000169551.6_Silent_p.L41L			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	41					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											AGCCCAGTTTGAGATGTGGGC	0.502000													196	185					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1390701	1390701	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:1390701C>T	ENST00000259806.1	+	1	633	c.519C>T	c.(517-519)taC>taT	p.Y173Y		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	173					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AGGGCCACTACTGGACCATCG	0.662000													38	60					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47652135	47652135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:47652135G>A	ENST00000302503.3	-	8	668	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	MTCH2_ENST00000542981.1_Missense_Mutation_p.R23W	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	171					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCCTCTTCCCGATAGATGGTT	0.328000													20	50					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21479384	21479384	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:21479384G>A	ENST00000313654.9	+	47	6210	c.5969G>A	c.(5968-5970)aGa>aAa	p.R1990K	LAMA3_ENST00000269217.6_Missense_Mutation_p.R381K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000587184.1_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1990	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCACCTCAGAGAAGCAGAA	0.488000													21	30					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231988396	231988396	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:231988396G>A	ENST00000258400.3	-	2	595	c.83C>T	c.(82-84)tCt>tTt	p.S28F	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	28					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CCAGTTAGAAGAGATAACGTG	0.413000													15	102					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71256165	71256165	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:71256165C>T	ENST00000260382.5	+	9	1075	c.815C>T	c.(814-816)tCg>tTg	p.S272L	LRRC49_ENST00000544974.2_Missense_Mutation_p.S262L|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.S277L|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Missense_Mutation_p.S228L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	272						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTTCCCTCTCGGACATCACC	0.443000													26	65					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509877	171509877	+	Missense_Mutation	SNP	C	C	T	rs77985453		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:171509877C>T	ENST00000367742.3	+	16	3514	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L	PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1091L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1089L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S1089L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1089							protein C-terminus binding										AAATTTCCTTCAACAGAAACT	0.488000													56	36					0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117513142	117513142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:117513142G>A	ENST00000335209.7	-	2	248	c.62C>T	c.(61-63)tCa>tTa	p.S21L	TESC_ENST00000541210.1_Missense_Mutation_p.S21L|TESC_ENST00000392545.4_Missense_Mutation_p.S74L			Q96BS2	TESC_HUMAN	tescalcin	21					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CTGATCCGATGAGACTGAGAA	0.507000													18	24					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46747498	46747498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:46747498C>T	ENST00000311907.5	+	7	705	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	F2_ENST00000530231.1_Missense_Mutation_p.R217W	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	217	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TGTCCCTGATCGGGGGCAGCA	0.642000													10	48					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167919763	167919763	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:167919763G>C	ENST00000231572.3	+	3	334	c.280G>C	c.(280-282)Gat>Cat	p.D94H	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	94					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGCATATCCAGATTTGGAAAA	0.418000													32	9					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70928367	70928367	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:70928367C>G	ENST00000334414.6	-	31	6313	c.6269G>C	c.(6268-6270)gGa>gCa	p.G2090A	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1782A|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1782A|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1872A|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2002A|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1782A|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1872					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTCTGGGACTCCATGGTCTGG	0.537000													3	27					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	135					0	0	1	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107346	27107346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:27107346G>A	ENST00000354348.2	+	1	271	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	87					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CGCCATGGACGTGGTCTACGC	0.597000			T	BCL6	NHL								27	6					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373535	140373535	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:140373535G>A	ENST00000072869.4	+	1	583	c.405G>A	c.(403-405)ctG>ctA	p.L135L	ADCK2_ENST00000476491.1_Silent_p.L135L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	135						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTGCTTCTGAAAGCCACCG	0.607000													22	65					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252746	208252746	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:208252746G>C	ENST00000367033.3	-	12	3202	c.2445C>G	c.(2443-2445)ctC>ctG	p.L815L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	815					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTCGGCCTTGAGGCAGAGGC	0.617000													3	9					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190813	62190813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:62190813C>T	ENST00000371180.2	-	1	282	c.166G>A	c.(166-168)Gag>Aag	p.E56K	TM2D1_ENST00000294613.5_5'UTR|TM2D1_ENST00000606498.1_5'UTR	NM_032027.2	NP_114416.1	Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	0					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						GACACTTTCTCGCCACTTCCG	0.642000													20	26					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91652316	91652316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:91652316C>T	ENST00000359028.2	+	15	4402	c.4177C>T	c.(4177-4179)Ccg>Tcg	p.P1393S	AKAP9_ENST00000356239.3_Missense_Mutation_p.P1381S|AKAP9_ENST00000358100.2_Missense_Mutation_p.P1393S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1393					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTCCACGGTTCCGCCAAGGTA	0.368000			T	BRAF	papillary thyroid								27	46					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32109933	32109933	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:32109933C>T	ENST00000396184.3	-	2	277	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PDE1C_ENST00000321453.7_Missense_Mutation_p.E25K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E25K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E25K|PDE1C_ENST00000396193.1_Intron	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	25					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CAGATTTTCTCGATCTGTTCC	0.512000													31	77					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46792402	46792402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:46792402G>A	ENST00000529230.1	-	25	3168	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	CKAP5_ENST00000415402.1_Missense_Mutation_p.A1041V|CKAP5_ENST00000312055.5_Missense_Mutation_p.A1041V|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1041V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1041					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GAATGGCAAGGCATCTTGGGC	0.443000													37	77					0	0	1	0	0
EIF4EBP2	1979	broad.mit.edu	37	10	72179697	72179697	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:72179697T>G	ENST00000373218.4	+	2	196	c.173T>G	c.(172-174)tTt>tGt	p.F58C		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	58					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						GACAGAAAGTTTCTGTTGGAT	0.443000													22	75					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074419	54074419	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:54074419G>A	ENST00000373970.3	+	1	364	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	75					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATAAGTACCAGACCATTGACA	0.622000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	1	0	0
LOC100131496	100131496	broad.mit.edu	37	20	45947812	45947812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:45947812G>A	ENST00000599904.1	+	1	567	c.448G>A	c.(448-450)Gga>Aga	p.G150R	ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000352431.2_Intron																							TCTCCCAGGGGGAGGAGGAAG	0.597000													5	6					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15822384	15822384	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:15822384C>T	ENST00000281172.5	-	6	889	c.453G>A	c.(451-453)ctG>ctA	p.L151L	EPS8_ENST00000543523.1_Silent_p.L151L|EPS8_ENST00000543612.1_Silent_p.L151L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	151					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTTGCACACCAGTGCAAGAA	0.393000													17	44					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941715	232941715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:232941715G>A	ENST00000418460.1	+	1	1073	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GCGGACTGGGGACATTGCACT	0.687000													5	13					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233407218	233407218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:233407218G>T	ENST00000389494.3	+	6	613	c.592G>T	c.(592-594)Gag>Tag	p.E198*	CHRNG_ENST00000389492.3_Nonsense_Mutation_p.E146*	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	198					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CATTGACCCTGAGGCCTTCAC	0.577000													13	19					7.93312e-07	8.07332e-07	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63990539	63990539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:63990539G>A	ENST00000279227.5	+	14	1797	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	FERMT3_ENST00000345728.5_Missense_Mutation_p.D564N	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	568					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CAGCAGGAAAGACGAGATCCT	0.637000													38	18					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665175	111665175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:111665175G>A	ENST00000374647.5	-	16	2105	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P251S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	600					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACCGAACAGGAAATCCACCA	0.438000													17	26					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446217	29446217	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:29446217C>T	ENST00000544604.2	+	8	2223	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S583L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S583L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S583L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	683						integral to membrane	zinc ion binding	p.S583L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGCTCTACCTCAGAAGTGGGG	0.662000													26	26					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118642234	118642234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:118642234G>A	ENST00000336338.5	-	6	889	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	275						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CATACCTTCTGACTGAAGAAG	0.388000													111	70					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147525746	147525746	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:147525746G>A	ENST00000367481.3	+	1	186	c.78G>A	c.(76-78)caG>caA	p.Q26Q	STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000546097.1_Silent_p.Q26Q|STXBP5_ENST00000321680.6_Silent_p.Q26Q|STXBP5_ENST00000367480.3_Silent_p.Q26Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	26	Poly-Gln.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCAACAGCAGCAGCATCCGC	0.657000													10	7					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594000	30594000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:30594000C>T	ENST00000395216.2	-	3	1258	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E352K|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCGCCTCTCGCTGCAGGAG	0.642000													18	91					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:11117571G>A	ENST00000304623.8	-	13	2457	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.I665I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000503622.1_Silent_p.I419I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527000													35	97					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31003328	31003328	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:31003328C>A	ENST00000215838.3	+	1	504	c.10C>A	c.(10-12)Ctt>Att	p.L4I	TCN2_ENST00000405742.3_Missense_Mutation_p.L4I|TCN2_ENST00000407817.3_Missense_Mutation_p.L4I			P20062	TCO2_HUMAN	transcobalamin II	4					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATGAGGCACCTTGGGGCCTT	0.612000													20	53					1.50039e-11	1.55671e-11	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29187576	29187576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:29187576G>T	ENST00000321990.4	+	10	3460	c.3082G>T	c.(3082-3084)Gaa>Taa	p.E1028*	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1028					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGGAAGTCAGAAGAACTTAG	0.333000													31	54					9.04072e-19	9.55219e-19	1	1	0
GATA3	2625	broad.mit.edu	37	10	8115823	8115823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:8115823C>T	ENST00000379328.3	+	6	1740	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S390L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	390					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AAGAACAGCTCGTTTAACCCG	0.542000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						16	34					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116840478	116840478	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:116840478G>A	ENST00000265132.3	-	1	274	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	4					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCAGGGCCCCGAGGCTCCTCA	0.617000													32	5					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168652	36168652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:36168652G>C	ENST00000357641.6	+	2	806	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	BRPF3_ENST00000534694.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000534400.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000339717.7_Missense_Mutation_p.E185Q|BRPF3_ENST00000543502.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000443324.2_Missense_Mutation_p.E185Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	185					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGATACCTTTGAGCTGCTGGT	0.522000													11	31					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952176	196952176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:196952176G>A	ENST00000367414.5	+	2	348	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E74K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	74	Sushi 2.				complement activation, alternative pathway	extracellular region		p.E74K(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACATGCACAGAAGAAGGATG	0.418000													97	53					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121731848	121731848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:121731848G>C	ENST00000393376.1	-	17	2020	c.1925C>G	c.(1924-1926)tCa>tGa	p.S642*	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Nonsense_Mutation_p.S642*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	642	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGATTGTTTGAATGTTCAGG	0.373000													9	23					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736643	44736643	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:44736643C>T	ENST00000222673.5	+	15	2073	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_ENST00000449767.1_Silent_p.D673D|OGDH_ENST00000444676.1_Silent_p.D692D|OGDH_ENST00000543843.1_Silent_p.D628D|OGDH_ENST00000447398.1_Silent_p.D688D|OGDH_ENST00000439616.2_Silent_p.D527D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	677					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGGCCAGGACGTGGAGCGGG	0.552000													10	40					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159747096	159747096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:159747096G>A	ENST00000264433.6	+	2	211	c.136G>A	c.(136-138)Gag>Aag	p.E46K	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Missense_Mutation_p.E69K	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	46					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGACCTGAATGAGATTCGCCT	0.433000													72	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216108115	216108115	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:216108115C>T	ENST00000366943.2	-	38	7529	c.7143G>A	c.(7141-7143)ctG>ctA	p.L2381L	USH2A_ENST00000307340.3_Silent_p.L2381L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2381	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGACATTCAGAAGGGTGT	0.323000										HNSCC(13;0.011)			31	57					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030223	79030223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:79030223G>A	ENST00000446378.2	+	2	5666	c.5635G>A	c.(5635-5637)Gaa>Aaa	p.E1879K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1879						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGTCAAAGAAACAAAAAT	0.373000													9	17					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39127564	39127564	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:39127564C>T	ENST00000588934.1	+	5	473	c.390C>T	c.(388-390)ttC>ttT	p.F130F	EIF3K_ENST00000592558.1_3'UTR|EIF3K_ENST00000593149.1_3'UTR|EIF3K_ENST00000248342.4_3'UTR			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	0					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGTAACTTCAGGTGTTTAA	0.577000													36	57					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26592246	26592246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:26592246G>C	ENST00000381340.3	-	47	6873	c.6457C>G	c.(6457-6459)Cgg>Ggg	p.R2153G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2153					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTATCATGCCGGACAATCTGA	0.373000													19	69					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45986877	45986877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:45986877G>A	ENST00000257821.4	-	9	1608	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	PHF21A_ENST00000323180.6_Missense_Mutation_p.L329F|PHF21A_ENST00000418153.2_Missense_Mutation_p.L328F|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	328					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGTTTTTCAAGACTTGGCTTG	0.502000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	10					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877632	82877632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:82877632C>G	ENST00000298281.4	+	5	2145	c.1693C>G	c.(1693-1695)Cga>Gga	p.R565G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	565					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGAAGAGGAGCGACCACAAGA	0.423000													5	26					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151682265	151682265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:151682265C>T	ENST00000290583.4	-	3	1024	c.231G>A	c.(229-231)atG>atA	p.M77I	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.M77I	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	77	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCGGCCTGTTCATCTGAAGGA	0.637000													23	58					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995051	55995051	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:55995051A>G	ENST00000391718.2	+	3	3044	c.2479A>G	c.(2479-2481)Acg>Gcg	p.T827A	ZNF628_ENST00000598519.1_Missense_Mutation_p.T831A	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	827	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGAAGTAACCACGGTCCAGCT	0.642000													9	56					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46254175	46254175	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:46254175A>G	ENST00000372004.3	+	5	523	c.307A>G	c.(307-309)Aca>Gca	p.T103A	NCOA3_ENST00000371997.3_Missense_Mutation_p.T103A|NCOA3_ENST00000371998.3_Missense_Mutation_p.T103A|NCOA3_ENST00000341724.6_Missense_Mutation_p.T103A	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	103					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTATCTTCTACAGGGCAGGG	0.373000													30	73					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861629	67861629	+	Missense_Mutation	SNP	G	G	A	rs143899990	by1000genomes	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:67861629G>A	ENST00000262345.1	+	16	3086	c.2446G>A	c.(2446-2448)Gct>Act	p.A816T	IL12RB2_ENST00000544434.1_Missense_Mutation_p.A730T|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	816					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGCACCTCTCGCTGACTCTCT	0.552000													45	234					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792604	44792604	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:44792604G>A	ENST00000291182.4	-	5	1086	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGCTCTGACTGAAACCTTTAC	0.443000													49	67					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28500624	28500624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:28500624C>T	ENST00000569430.1	-	5	1028	c.209G>A	c.(208-210)gGa>gAa	p.G70E	CLN3_ENST00000357806.7_Missense_Mutation_p.G70E|CLN3_ENST00000354630.5_Missense_Mutation_p.G70E|CLN3_ENST00000359984.7_Missense_Mutation_p.G70E|CLN3_ENST00000357857.9_Missense_Mutation_p.G16E|CLN3_ENST00000567963.1_Missense_Mutation_p.G70E|CLN3_ENST00000535392.1_Missense_Mutation_p.G16E|CLN3_ENST00000565316.1_Missense_Mutation_p.G70E|CLN3_ENST00000568224.1_Missense_Mutation_p.G16E|CLN3_ENST00000360019.2_Missense_Mutation_p.G70E|CLN3_ENST00000355477.5_Missense_Mutation_p.G70E|CLN3_ENST00000357076.5_Missense_Mutation_p.G70E|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000333496.9_Missense_Mutation_p.G70E			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	70					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GCTCTGGTTTCCCGATGTCCT	0.547000													14	29					0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698896	29698896	+	Silent	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:29698896A>G	ENST00000304863.4	-	2	806	c.384T>C	c.(382-384)gcT>gcC	p.A128A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	128					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CATTCTTGGCAGCATATGCGA	0.458000													7	61					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925305	38925305	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:38925305G>C	ENST00000274276.3	+	15	2446		c.e15-1			NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor						cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAAATCACAGATGGTTCAGA	0.328000													14	38					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119691810	119691810	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:119691810G>A	ENST00000371322.5	-	2	702	c.641C>T	c.(640-642)tCa>tTa	p.S214L	CUL4B_ENST00000336592.6_Missense_Mutation_p.S219L|CUL4B_ENST00000404115.3_Missense_Mutation_p.S232L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	232					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTACTTAATTGAAGTACTATT	0.318000													11	29					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61548000	61548000	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:61548000C>T	ENST00000474889.1	+	1	416	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Silent_p.F13F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	13					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGATTTTGTTCCTGAAAATCA	0.567000													73	48					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8383281	8383281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:8383281G>A	ENST00000356406.5	-	14	1668	c.1591C>T	c.(1591-1593)Caa>Taa	p.Q531*	ACOX3_ENST00000413009.2_Nonsense_Mutation_p.Q531*|ACOX3_ENST00000503233.1_Nonsense_Mutation_p.Q531*	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	531					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TTTAATTTTTGATAAGTCTCT	0.388000													66	77					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45872195	45872195	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:45872195A>G	ENST00000391945.4	-	4	316	c.239T>C	c.(238-240)aTt>aCt	p.I80T	ERCC2_ENST00000391944.3_Missense_Mutation_p.I80T|ERCC2_ENST00000221481.6_Missense_Mutation_p.I80T|ERCC2_ENST00000391940.4_Missense_Mutation_p.I56T|ERCC2_ENST00000485403.2_Missense_Mutation_p.I56T	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	80	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TACCTTCTCAATCTCTGGCAC	0.587000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	41					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247280	153247280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:153247280G>A	ENST00000281708.4	-	10	2751	c.1522C>T	c.(1522-1524)Caa>Taa	p.Q508*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.Q332*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q508*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.Q390*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.Q428*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q508*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	508				Q -> R (in Ref. 7; AAH37320).	interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCATCATATTGAACACAGCGG	0.473000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	53					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226471	155226471	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:155226471C>T	ENST00000355379.3	-	7	1091	c.813G>A	c.(811-813)ctG>ctA	p.L271L	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.L297L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	297					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCCGTTTCAGCATGACAA	0.602000													5	32					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765427	57765427	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:57765427C>T	ENST00000535550.1	+	4	1337	c.841C>T	c.(841-843)Ctc>Ttc	p.L281F	ZNF805_ENST00000414468.2_Missense_Mutation_p.L414F|ZNF805_ENST00000354309.4_Missense_Mutation_p.L281F	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CCGATCCTACCTCAAAAGGCA	0.517000													22	33					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958926	50958926	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:50958926G>A	ENST00000374103.4	-	7	940	c.855C>T	c.(853-855)agC>agT	p.S285S	OGDHL_ENST00000419399.1_Silent_p.S228S|OGDHL_ENST00000432695.1_Silent_p.S76S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	285					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCCCCATCTCGCTGGATTTGT	0.577000													7	17					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407203	20407203	+	RNA	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:20407203C>G	ENST00000580113.1	-	0	436																											AAGTCACCCACCTTGTGCCTC	0.517000													9	97					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12430291	12430291	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:12430291T>A	ENST00000293725.5	-	4	753	c.548A>T	c.(547-549)aAc>aTc	p.N183I	ZNF563_ENST00000595977.1_Missense_Mutation_p.N183I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTTCGAAGGTTTCTACGAGA	0.418000													34	91					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46764346	46764346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:46764346C>T	ENST00000256689.5	-	4	707	c.263G>A	c.(262-264)gGa>gAa	p.G88E	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	88	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCCAAGGATTCCACTGCCCAC	0.408000													28	45					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8009014	8009014	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:8009014C>T	ENST00000533626.1	+	3	741	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	EIF3F_ENST00000537635.1_Missense_Mutation_p.P54S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000309828.4_Missense_Mutation_p.P39S			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	39			P -> L (in dbSNP:rs1043738).			cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ggctccggttcccgctgcggc	0.721000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	11					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39798876	39798876	+	Silent	SNP	G	G	A	rs149943087		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:39798876G>A	ENST00000373272.2	+	24	3180	c.2775G>A	c.(2773-2775)aaG>aaA	p.K925K	PLCG1_ENST00000373271.1_Silent_p.K925K|PLCG1_ENST00000244007.3_Silent_p.K925K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	925	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGTGAAAAAGATCCGTGAAG	0.622000													15	51					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7007212	7007212	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:7007212G>A	ENST00000389658.3	-	29	4279	c.4186C>T	c.(4186-4188)Ctg>Ttg	p.L1396L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1396	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGCAACCAGAGGGCGTGGT	0.587000													7	36					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98569558	98569558	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:98569558G>A	ENST00000359863.4	+	52	8017	c.7808G>A	c.(7807-7809)cGa>cAa	p.R2603Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2585Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2585Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2603					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GACACTCTCCGAGAGGTGAAG	0.478000													19	45					0	0	1	0	0
TMEM203	94107	broad.mit.edu	37	9	140099717	140099717	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:140099717G>A	ENST00000343666.5	-	1	373	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TMEM203_ENST00000537254.1_Silent_p.F50F	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	50						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGAAAGGCACGAACACGTTCC	0.637000													9	4					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100672686	100672686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:100672686C>T	ENST00000375119.3	-	4	698	c.622G>A	c.(622-624)Gag>Aag	p.E208K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	208					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GGTTGTGGCTCATCACACCCT	0.458000													41	6					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359154	64359154	+	Silent	SNP	C	C	A	rs148378818	byFrequency	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:64359154C>A	ENST00000377574.1	+	1	873	c.126C>A	c.(124-126)gcC>gcA	p.A42A	SLC22A12_ENST00000377567.2_Silent_p.A42A|SLC22A12_ENST00000336464.7_Silent_p.A42A|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Silent_p.A42A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	42					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACTTCTCGGCCGCCGTGCCCA	0.627000													20	68					0.00047179	0.000475228	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152690229	152690229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:152690229G>A	ENST00000367255.5	-	61	10286	c.9685C>T	c.(9685-9687)Cag>Tag	p.Q3229*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3268*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3236*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3236*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3229					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTTGAGCTGAGGCTCGTAG	0.512000										HNSCC(10;0.0054)			19	49					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227198725	227198725	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:227198725G>A	ENST00000334218.5	-	34	5734	c.4792C>T	c.(4792-4794)Ctg>Ttg	p.L1598L	CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366766.2_Intron|CDC42BPA_ENST00000366767.3_Intron			Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1611					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGGAGATCAGACCGGAGTGA	0.388000													4	10					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16010646	16010646	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:16010646G>A	ENST00000505450.1	-	11	1812	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	PROM1_ENST00000508167.1_Silent_p.F400F|PROM1_ENST00000539194.1_Silent_p.F409F|PROM1_ENST00000543373.1_Silent_p.F400F|PROM1_ENST00000447510.2_Silent_p.F409F|PROM1_ENST00000540805.1_Silent_p.F409F|PROM1_ENST00000510224.1_Silent_p.F409F	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	409					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CATAAACAGAGAATGCTGAGA	0.373000													6	16					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56637093	56637093	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:56637093G>A	ENST00000267116.7	-	28	3185	c.3064C>T	c.(3064-3066)Cca>Tca	p.P1022S	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	1022							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCTTGGGTGGGAAAGGCTTC	0.632000													9	8					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65346724	65346724	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:65346724G>A	ENST00000284037.5	+	20	2406	c.2017G>A	c.(2017-2019)Gat>Aat	p.D673N	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D669N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D673N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D673N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	673					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCTTAATACTGATAGTAGTCA	0.343000													8	22					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159043056	159043056	+	Silent	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:159043056T>C	ENST00000368130.4	-	2	522	c.234A>G	c.(232-234)gcA>gcG	p.A78A	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	78	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GAAGACGTTTTGCCAAAAGCA	0.468000													15	120					0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26448637	26448637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:26448637G>A	ENST00000374271.4	+	4	882	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PDIK1L_ENST00000374269.1_Missense_Mutation_p.A199T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	199	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTGTTCAGCCTCTGGGCA	0.443000													10	120					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71918201	71918201	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:71918201C>T	ENST00000266674.5	+	3	611	c.300C>T	c.(298-300)aaC>aaT	p.N100N	LGR5_ENST00000536515.1_Silent_p.N100N|LGR5_ENST00000540815.2_Silent_p.N100N			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	100						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTGCGGGAAACGCTCTGACAT	0.398000													8	48					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300752	158300752	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:158300752C>T	ENST00000368168.3	-	2	269	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	54					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGCCATGAATCTGCAAATCAT	0.488000													43	153					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90524173	90524173	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:90524173G>T	ENST00000404459.1	+	3	233	c.233G>T	c.(232-234)cGg>cTg	p.R78L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	78					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCAGGTCCCCGGCCAGTTGTG	0.463000													10	36					2.80697e-09	2.89928e-09	1	1	0
SLC9A8	23315	broad.mit.edu	37	20	48467329	48467329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:48467329G>A	ENST00000417961.1	+	7	775	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTGTGTGTTTGTGTGTTTTAT	0.363000													39	49					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52682499	52682499	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:52682499T>A	ENST00000355568.4	-	8	648	c.509A>T	c.(508-510)tAc>tTc	p.Y170F		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	170	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGGGACAGGTAGTAAGGTGT	0.343000													41	9					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17965155	17965155	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:17965155C>G	ENST00000361221.3	+	20	2301	c.2142C>G	c.(2140-2142)ctC>ctG	p.L714L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.L675L|ARHGEF10L_ENST00000375415.1_Silent_p.L675L|ARHGEF10L_ENST00000434513.1_Silent_p.L709L|ARHGEF10L_ENST00000375420.3_Silent_p.L472L|ARHGEF10L_ENST00000167825.4_Silent_p.L417L|ARHGEF10L_ENST00000375408.3_Silent_p.L487L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	714					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGTGCCGTCTCAGGCTCCTGC	0.617000													4	32					0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803733	160803733	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:160803733G>A	ENST00000392781.2	-	8	1557	c.810C>T	c.(808-810)gtC>gtT	p.V270V	B3GALNT1_ENST00000392779.2_Silent_p.V270V|B3GALNT1_ENST00000320474.4_Silent_p.V270V|B3GALNT1_ENST00000473285.1_Silent_p.V270V|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.V270V|B3GALNT1_ENST00000392780.1_Silent_p.V270V	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	270					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AACAGATCCCGACATAAACAT	0.363000													18	48					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908711	32908711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:32908711G>A	ENST00000324868.8	-	1	125	c.98C>T	c.(97-99)tCg>tTg	p.S33L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	33					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTGAGCGCCCGAGTGGGCCTT	0.597000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	101					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329946	88329946	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:88329946G>A	ENST00000325089.6	+	2	2522	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R527Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	768						integral to membrane		p.R768Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACCGCTCCCGAGAGGGCAAC	0.632000													41	11					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789099	140789099	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:140789099G>C	ENST00000520790.1	+	1	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGTCGCTGACATCAACGA	0.572000													10	45					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103141337	103141337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:103141337G>A	ENST00000428762.1	-	53	8681	c.8522C>T	c.(8521-8523)tCa>tTa	p.S2841L	RELN_ENST00000343529.5_Missense_Mutation_p.S2841L|RELN_ENST00000424685.2_Missense_Mutation_p.S2841L|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2841					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCATGTCTGAGTACTTCTG	0.443000													42	106					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323811	38323811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:38323811C>T	ENST00000215957.6	+	9	1985	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	620	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCTGGAAGCTCGTCCCCACAG	0.617000													14	31					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35169762	35169762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:35169762G>A	ENST00000381318.3	+	18	2320	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ITSN1_ENST00000437442.2_Missense_Mutation_p.E678K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E678K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E678K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E678K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E641K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E678K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E678K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E678K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E678K|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	678	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAAACTCCACGAAGAGGAAAA	0.502000													21	50					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117098969	117098969	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:117098969C>G	ENST00000320934.3	-	4	1196	c.566G>C	c.(565-567)gGa>gCa	p.G189A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	189	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGTTCCACTCCGTCATCCAC	0.587000			T	IGH@	MLCLS								3	9					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101296316	101296316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:101296316G>T	ENST00000369162.2	-	4	853	c.509C>A	c.(508-510)tCa>tAa	p.S170*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.S170*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CATGTCAAATGAAAATGCTAA	0.328000													6	70					5.9392e-07	6.06202e-07	1	1	0
DHRS3	9249	broad.mit.edu	37	1	12640692	12640692	+	Silent	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:12640692A>G	ENST00000376223.2	-	2	581	c.198T>C	c.(196-198)atT>atC	p.I66I	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	66					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCCAGAGAACAATCTGGAAGA	0.468000													12	46					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25973483	25973483	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:25973483G>A	ENST00000357085.3	+	7	1320	c.844G>A	c.(844-846)Gat>Aat	p.D282N	TRIM38_ENST00000349458.3_Missense_Mutation_p.D282N	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	282	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCTTTACTTCGATGTGAAGAA	0.428000													22	5					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254554	18254554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:18254554C>T	ENST00000377369.2	+	4	959	c.686C>T	c.(685-687)tCc>tTc	p.S229F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S229F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S229F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S95F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	229					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AACTTGCCTTCCCCAGACTAC	0.438000													10	35					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39316747	39316747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:39316747G>C	ENST00000373313.2	-	1	1133	c.744C>G	c.(742-744)aaC>aaG	p.N248K	MAFB_ENST00000396967.1_Missense_Mutation_p.N248K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	248					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGTAGCCCCGGTTCTTCAGGG	0.607000			T	IGH@	MM								4	33					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8988246	8988246	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:8988246C>T	ENST00000299698.7	+	6	807	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	53						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTGGTACTTTCAGTGTGGAGG	0.527000													6	24					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186507968	186507968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:186507968G>A	ENST00000392481.2	-	10	1240	c.959C>T	c.(958-960)tCt>tTt	p.S320F	RFC4_ENST00000433496.1_Missense_Mutation_p.S293F|RFC4_ENST00000296273.2_Missense_Mutation_p.S320F	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	320					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTGTTTATCAGATAAGTTATT	0.338000													22	35					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56276500	56276500	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:56276500C>T	ENST00000225371.5	+	8	1330	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	407					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CGCCTGAATCCCCGGTGGAAT	0.582000													19	19					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057481	53057481	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:53057481C>G	ENST00000359798.4	+	5	1492	c.1312C>G	c.(1312-1314)Cag>Gag	p.Q438E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTTTTCAGTCAGAAATCAAC	0.378000													11	50					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890007	139890007	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:139890007C>T	ENST00000303045.6	-	3	1090	c.644G>A	c.(643-645)cGc>cAc	p.R215H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R215H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity	p.R215H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAAAGACGGCGCCGCAGCTT	0.657000										HNSCC(7;0.00092)			5	32					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998637	46998637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:46998637C>T	ENST00000599531.1	-	1	1118	c.86G>A	c.(85-87)gGc>gAc	p.G29D	AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Missense_Mutation_p.G29D|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	29										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ctgctccaggccctccgggat	0.662000													28	44					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20016868	20016868	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:20016868C>G	ENST00000377340.2	-	15	2549	c.2518G>C	c.(2518-2520)Gat>Cat	p.D840H	CRNKL1_ENST00000377327.4_Missense_Mutation_p.D828H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D679H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	840					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACGTCCTCATCTGGATGGTGC	0.423000													20	109					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510788	38510788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:38510788G>C	ENST00000263409.4	-	7	931	c.769C>G	c.(769-771)Caa>Gaa	p.Q257E	LIFR_ENST00000453190.2_Missense_Mutation_p.Q257E|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	257					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACTTTATCTTGAGGAAAAACC	0.328000			T	PLAG1	salivary adenoma								25	52					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138195328	138195328	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:138195328C>T	ENST00000389567.4	+	22	2804	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	873						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AAGGGCTTTTCACAATGGTAA	0.348000													35	27					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40239281	40239281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:40239281C>T	ENST00000416691.1	+	4	518	c.418C>T	c.(418-420)Caa>Taa	p.Q140*	COG6_ENST00000455146.3_Nonsense_Mutation_p.Q140*	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	140					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CACTAAGCTTCAATCTGAAAG	0.264000													23	34					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044501	56044501	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:56044501G>C	ENST00000244728.5	-	3	912	c.515C>G	c.(514-516)tCa>tGa	p.S172*	COL21A1_ENST00000535941.1_Nonsense_Mutation_p.S172*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.S172*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	172	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCTGTTTCTGAACCAACACC	0.403000													9	26					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240494020	240494020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:240494020C>G	ENST00000319653.9	+	11	4785	c.4555C>G	c.(4555-4557)Ctt>Gtt	p.L1519V	FMN2_ENST00000545751.1_Missense_Mutation_p.L115V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1519	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTAGACATTCTTCCAAAACT	0.418000													11	55					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957061	33957061	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:33957061C>T	ENST00000361328.3	+	6	1356	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	ZSCAN20_ENST00000373413.2_Silent_p.F347F	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	401					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGCCCCTTCTATGAGGAGC	0.602000													17	31					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9822172	9822172	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:9822172C>T	ENST00000301964.2	-	9	1726	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	TADA3_ENST00000440161.1_Missense_Mutation_p.E390K	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	390					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCCATGACCTCGTTGTCAGCC	0.632000													3	14					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17555289	17555289	+	Silent	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:17555289G>T	ENST00000375471.4	+	7	914	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	274					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P274P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGGTGGACCCGGGGGTGTGTA	0.657000													10	73					0.000978159	0.000983854	1	1	0
DLX1	1745	broad.mit.edu	37	2	172951431	172951431	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:172951431C>T	ENST00000361725.4	+	2	815	c.363C>T	c.(361-363)ttC>ttT	p.F121F	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AAGTGCGCTTCAATGGCAAGG	0.547000													67	40					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492424	149492424	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:149492424C>T	ENST00000378016.2	+	0	6313							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCAGCCCTCAGGGATGGCA	0.667000													5	13					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955316	30955316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:30955316C>T	ENST00000295055.8	-	20	2091	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E639K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	639	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCCATGGCTTCAAGCCGCATC	0.617000													7	26					0	0	1	0	0
NINJ1	4814	broad.mit.edu	37	9	95887273	95887273	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:95887273C>T	ENST00000375446.4	-	3	446	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	126					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						ATGATGAACACCAGGCCCGTG	0.587000													30	4					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173570901	173570901	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:173570901G>T	ENST00000367714.3	-	2	437	c.15C>A	c.(13-15)ttC>ttA	p.F5L	SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	5					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTTGTGCCCAGAAGTAAGAAC	0.418000													19	264					6.21321e-17	6.53475e-17	1	1	0
GFOD1	54438	broad.mit.edu	37	6	13365752	13365752	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:13365752C>T	ENST00000379287.3	-	2	1060	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GFOD1_ENST00000379284.1_Silent_p.K29K	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	132						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGATCAGCTGCTTCATGCGCA	0.637000													19	57					0	0	1	0	0
TSR3	115939	broad.mit.edu	37	16	1400929	1400929	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:1400929C>T	ENST00000007390.2	-	3	511	c.405G>A	c.(403-405)ggG>ggA	p.G135G		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CTCGCATCTTCCCAAACGGTG	0.627000													22	9					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38890650	38890650	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:38890650C>G	ENST00000396821.3	-	8	1298	c.1199G>C	c.(1198-1200)aGt>aCt	p.S400T	DDX17_ENST00000381633.3_Missense_Mutation_p.S321T|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	321	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTCTTTTTCACTTTCCATGCA	0.393000													8	53					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153640475	153640475	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:153640475C>T	ENST00000299328.5	+	2	451	c.162C>T	c.(160-162)atC>atT	p.I54I	TAZ_ENST00000369776.4_Intron|TAZ_ENST00000350743.4_Silent_p.I54I|TAZ_ENST00000351413.4_Silent_p.I54I|TAZ_ENST00000475699.1_Silent_p.I54I|TAZ_ENST00000369790.4_Silent_p.I54I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	54					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGAGCTCATCGAGAAGCGAG	0.652000											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	8					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151864437	151864437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:151864437C>G	ENST00000355193.2	-	42	9762	c.9544G>C	c.(9544-9546)Gag>Cag	p.E3182Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E3182Q					lysine (K)-specific methyltransferase 2C																		TGGAGCCACTCTTCATACTGC	0.368000													8	81					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	32					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003700	41003700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:41003700G>A	ENST00000308423.2	+	1	500	c.340G>A	c.(340-342)Gac>Aac	p.D114N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	114					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGCTCACTTGGACAGGGGGAG	0.677000													11	25					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62039329	62039329	+	Silent	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:62039329T>A	ENST00000280772.2	-	2	374	c.183A>T	c.(181-183)atA>atT	p.I61I	ANK3_ENST00000503366.1_Silent_p.I44I|ANK3_ENST00000373827.2_Silent_p.I55I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCCATTTTTTATGTAGTCGA	0.338000													71	54					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49361757	49361757	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:49361757C>T	ENST00000301061.4	-	4	1031	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	WNT10B_ENST00000403957.1_Missense_Mutation_p.E163K|WNT10B_ENST00000407467.1_Missense_Mutation_p.E181K	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	228					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTTGTGGATTCGCATTCGTGC	0.537000													9	24					0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109300445	109300445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:109300445G>A	ENST00000393310.1	+	10	1135	c.968G>A	c.(967-969)gGa>gAa	p.G323E	LIMS1_ENST00000332345.6_Missense_Mutation_p.G323E|LIMS1_ENST00000542845.1_Missense_Mutation_p.G385E|LIMS1_ENST00000409441.1_Missense_Mutation_p.G360E|LIMS1_ENST00000338045.3_Missense_Mutation_p.G323E|LIMS1_ENST00000544547.1_Missense_Mutation_p.G335E|LIMS1_ENST00000410093.1_Missense_Mutation_p.G327E	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	323					cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAGACCTTAGGAAGGAAATAA	0.343000													9	57					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90272965	90272965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:90272965C>T	ENST00000469640.2	+	18	2221	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	DAPK1_ENST00000358077.5_Missense_Mutation_p.L616F|DAPK1_ENST00000472284.1_Missense_Mutation_p.L616F|DAPK1_ENST00000408954.3_Missense_Mutation_p.L616F|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000491893.1_Missense_Mutation_p.L616F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	616					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCCTCTGCACCTTGCGGCCAA	0.562000									Chronic Lymphocytic Leukemia, Familial Clustering of				5	1					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238645	71238645	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:71238645C>A	ENST00000398536.4	+	1	333	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	100	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgctataagccctgctgctgc	0.632000													4	109					9.05144e-12	9.40533e-12	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51497405	51497405	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:51497405T>G	ENST00000371117.3	-	65	11898	c.11623A>C	c.(11623-11625)Agc>Cgc	p.S3875R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3875					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCAGACAGCTCAGAGCCAGC	0.433000													4	58					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38448409	38448409	+	Translation_Start_Site	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:38448409T>G	ENST00000506135.1	+	0	139				EGFLAM_ENST00000397210.3_De_novo_Start_InFrame|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I190R|EGFLAM_ENST00000514476.1_De_novo_Start_InFrame|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I832R|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I824R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I590R			Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains							cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGCGATCATAGAAGCCATT	0.483000													48	104					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826374	65826374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65826374C>T	ENST00000528302.1	+	9	1043	c.989C>T	c.(988-990)tCt>tTt	p.S330F	SF3B2_ENST00000322535.6_Missense_Mutation_p.S347F			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	347					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCTGAGAGCTCTGGGGACCGG	0.537000													16	113					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019783	131019783	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:131019783C>T	ENST00000421699.2	-	25	2671	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E875K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	887						Golgi cisterna membrane	protein binding	p.E875*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AAGACCAGCTCCTGCAGCTCC	0.642000													4	11					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303483	6303483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:6303483C>T	ENST00000226760.1	+	8	2131	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L	WFS1_ENST00000503569.1_Missense_Mutation_p.S654L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	654					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GTGTACCGCTCAGAGGGCATG	0.612000													37	163					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30742444	30742444	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:30742444G>C	ENST00000215793.8	-	3	404	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	SF3A1_ENST00000439242.1_Missense_Mutation_p.L84V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTGGGGTTCAGAAAGTTGAAC	0.507000													41	48					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55652856	55652856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:55652856C>T	ENST00000310958.6	-	8	1413	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	CCPG1_ENST00000442196.3_Missense_Mutation_p.R372K|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.R372K	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	372					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CAGAGTCTCCCTTTGACTAAG	0.403000													16	43					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405315	91405315	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:91405315G>A	ENST00000370440.1	-	3	1813	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.F532F			Q9H582	ZN644_HUMAN	zinc finger protein 644	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCACTGCCATGAAGTTACACT	0.418000													31	64					0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85826217	85826217	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:85826217C>T	ENST00000409668.1	-	7	1265	c.798G>A	c.(796-798)gaG>gaA	p.E266E	TMEM150A_ENST00000334462.5_Silent_p.E266E|TMEM150A_ENST00000306353.3_Silent_p.E213E			Q86TG1	T150A_HUMAN	transmembrane protein 150A	266						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TAGCGATGCTCTCGGGGGCAC	0.597000													18	50					0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48072263	48072263	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:48072263C>T	ENST00000434704.2	-	1	325	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ACAGAAGACTCGGGCAGGGTA	0.607000													17	33					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153587899	153587899	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:153587899G>A	ENST00000422373.1	-	24	4343	c.4095C>T	c.(4093-4095)atC>atT	p.I1365I	FLNA_ENST00000360319.4_Silent_p.I1365I|FLNA_ENST00000344736.4_Silent_p.I1365I|FLNA_ENST00000369850.3_Silent_p.I1365I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1365					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACTTTGGATGCCTGGCC	0.667000													48	80					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12680761	12680761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:12680761C>G	ENST00000262127.2	-	9	1414	c.1189G>C	c.(1189-1191)Gtt>Ctt	p.V397L	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.V322L	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	397					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAACACAAACAAAGGCTTCT	0.428000													18	120					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208666	14208666	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:14208666G>C	ENST00000308677.4	-	6	652	c.456C>G	c.(454-456)gtC>gtG	p.V152V	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.V144V	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	152	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CAAAGGTCAGGACGATCTGGG	0.572000													8	29					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:34867123G>A	ENST00000505624.1	+	7	892	c.789G>A	c.(787-789)caG>caA	p.Q263Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263							binding	p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547000													4	10					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48179640	48179640	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:48179640C>T	ENST00000080059.7	-	23	2600	c.2601G>A	c.(2599-2601)atG>atA	p.M867I	HDAC7_ENST00000380610.4_Missense_Mutation_p.M884I|HDAC7_ENST00000552960.1_Missense_Mutation_p.M850I|HDAC7_ENST00000354334.3_Missense_Mutation_p.M830I|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000427332.2_Missense_Mutation_p.M828I	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	828					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGCCAGGTTCATCAGTTGCT	0.597000													8	4					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99192766	99192766	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:99192766C>G	ENST00000547776.2	-	21	3212	c.3213G>C	c.(3211-3213)ctG>ctC	p.L1071L	ANKS1B_ENST00000549493.2_Silent_p.L321L|ANKS1B_ENST00000549558.2_Silent_p.L237L|ANKS1B_ENST00000547446.1_Silent_p.L206L|ANKS1B_ENST00000549025.2_Silent_p.L169L|ANKS1B_ENST00000341752.7_Silent_p.L77L|ANKS1B_ENST00000332712.7_Silent_p.L261L|ANKS1B_ENST00000333732.7_Silent_p.L101L|ANKS1B_ENST00000546960.1_Silent_p.L297L|ANKS1B_ENST00000550693.2_Silent_p.L261L|ANKS1B_ENST00000546568.1_Silent_p.L237L|ANKS1B_ENST00000547010.1_Silent_p.L587L|ANKS1B_ENST00000329257.7_Silent_p.L1071L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1071	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCTTTTATCAGCATAGAAC	0.299000													4	27					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838770	100838770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:100838770C>G	ENST00000369208.3	-	12	2550	c.1768G>C	c.(1768-1770)Gac>Cac	p.D590H	SIM1_ENST00000262901.4_Missense_Mutation_p.D590H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	590	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCCAGTTGGTCTGAGGGGGCT	0.468000													5	45					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157389	65157389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:65157389G>A	ENST00000323544.4	+	6	903	c.775G>A	c.(775-777)Gag>Aag	p.E259K	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	259	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTGGCTCTGAGCAGCCTCC	0.632000													18	27					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340296	116340296	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:116340296C>T	ENST00000397752.3	+	2	1358	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	MET_ENST00000318493.6_Silent_p.L386L|MET_ENST00000436117.2_Silent_p.L386L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	386	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGAGATGTCTCCAGCATTTTT	0.398000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				51	54					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100895394	100895394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:100895394C>T	ENST00000343933.5	-	5	831	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	CORO2A_ENST00000375077.4_Missense_Mutation_p.G192S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	192					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AACAGGCTGCCGTTGGTGTTG	0.562000													22	30					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44598938	44598938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:44598938G>C	ENST00000273320.3	+	2	828	c.399G>C	c.(397-399)caG>caC	p.Q133H	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q133H|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.Q133H|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.Q133H	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		AGGATTTCCAGAGACACCTCA	0.567000													10	31					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126090300	126090300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:126090300G>A	ENST00000368845.5	-	8	1101	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	OAT_ENST00000539214.1_Missense_Mutation_p.L199F|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	337					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TTTACCTCAAGGGCTGCGATG	0.448000													3	14					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46125033	46125033	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:46125033G>A	ENST00000334344.6	+	3	392	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	74	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E74*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATTGTTGAAGAGTTCAA	0.373000			"""N, S, F"""		hepatocellular carcinoma								8	68					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164122	150164122	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:150164122A>C	ENST00000307271.3	+	2	910	c.336A>C	c.(334-336)gaA>gaC	p.E112D		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	112						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGGATGAGGAAACAGCCAAGG	0.517000													25	26					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19187004	19187004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:19187004G>A	ENST00000314728.5	+	3	1056	c.572G>A	c.(571-573)gGc>gAc	p.G191D	EPN2_ENST00000395626.1_Missense_Mutation_p.G191D|EPN2_ENST00000347697.2_Missense_Mutation_p.G191D|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.G191D|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.G191D	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	191					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AAGGCCGGGGGCTCCCCGGCC	0.632000													6	12					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112492301	112492301	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:112492301G>C	ENST00000261745.4	-	14	1767	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	507						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AATTTGAACTGAGCATTGGAA	0.473000													14	38					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113448240	113448240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:113448240C>T	ENST00000342315.4	+	11	2325	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	704					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGATGTTCTCATCCAGAAGC	0.408000													72	134					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432962	220432962	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:220432962T>C	ENST00000404537.1	-	2	1153	c.1097A>G	c.(1096-1098)aAc>aGc	p.N366S	OBSL1_ENST00000373876.1_Missense_Mutation_p.N366S|OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000373873.4_Missense_Mutation_p.N366S|OBSL1_ENST00000603926.1_Missense_Mutation_p.N366S|OBSL1_ENST00000265318.4_Missense_Mutation_p.N366S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	366	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGCGGGAGTTGGGTACTTT	0.657000											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	26					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944851	117944851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:117944851G>A	ENST00000356554.3	+	2	1081	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	116					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGCTGATCATGAGAAGGCCTT	0.368000													14	60					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892626	17892626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:17892626C>T	ENST00000594202.1	+	23	2213	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	FCHO1_ENST00000389133.4_Missense_Mutation_p.P645L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P645L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P645L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P645L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P595L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P645L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P645L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P652L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	645										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGCCACAGCCCCAGGTACCCA	0.612000													13	37					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687000													3	9					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33256755	33256755	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:33256755C>T	ENST00000374617.4	-	2	461	c.105G>A	c.(103-105)ccG>ccA	p.P35P	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	35										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CGGCTGTGGTCGGAACGGTCT	0.567000													36	49					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30791990	30791990	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:30791990C>G	ENST00000383096.3	-	20	2290	c.2108G>C	c.(2107-2109)aGg>aCg	p.R703T	CCDC178_ENST00000300227.8_Missense_Mutation_p.R665T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R703T|CCDC178_ENST00000406524.2_Missense_Mutation_p.R703T|CCDC178_ENST00000402325.1_Missense_Mutation_p.R703T|CCDC178_ENST00000579947.1_Missense_Mutation_p.R703T|CCDC178_ENST00000583930.1_Missense_Mutation_p.R703T					coiled-coil domain containing 178																		TGCATGTTCCCTTTTAAATCT	0.323000													8	33					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36128344	36128344	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:36128344G>C	ENST00000262633.4	+	10	1436	c.1331G>C	c.(1330-1332)gGg>gCg	p.G444A	RBM42_ENST00000589559.1_Splice_Site_p.G350A|RBM42_ENST00000592202.1_Splice_Site_p.G390A|RBM42_ENST00000589871.1_Splice_Site_p.G422A|RBM42_ENST00000360475.4_Splice_Site_p.G415A|RBM42_ENST00000588161.1_Splice_Site_p.G414A|RBM42_ENST00000586618.1_Splice_Site_p.G148A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	444	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCTCCACAGGGAAGTATGTG	0.607000													4	69					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29123185	29123185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:29123185C>G	ENST00000324238.6	-	4	720	c.596G>C	c.(595-597)tGg>tCg	p.W199S	CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Missense_Mutation_p.W83S	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	199	Fibronectin type-III.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TACCTTACACCATCGTACAAT	0.378000													76	68					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533509	92533509	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:92533509A>C	ENST00000298047.6	+	9	7347	c.7330A>C	c.(7330-7332)Atg>Ctg	p.M2444L	FAT3_ENST00000525166.1_Missense_Mutation_p.M2294L|FAT3_ENST00000409404.2_Missense_Mutation_p.M2444L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2444	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCTTTCTGATGGACAGCAA	0.473000										TCGA Ovarian(4;0.039)			25	25					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41494360	41494360	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:41494360G>A	ENST00000402904.2	-	15	2121	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	SCMH1_ENST00000337495.5_Silent_p.L573L|SCMH1_ENST00000372596.1_Silent_p.L502L|SCMH1_ENST00000372595.1_Silent_p.L524L|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000397174.2_Silent_p.L543L|SCMH1_ENST00000361191.5_Silent_p.L502L|SCMH1_ENST00000397171.2_Silent_p.L502L|SCMH1_ENST00000361705.3_Silent_p.L516L|SCMH1_ENST00000456518.2_Silent_p.L405L|SCMH1_ENST00000326197.7_Silent_p.L585L|SCMH1_ENST00000372597.1_Silent_p.L516L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	585					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGGCCACTCAGTCGAGAGGCA	0.602000													44	22					0	0	1	0	0
ZNF517	340385	broad.mit.edu	37	8	146033033	146033033	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:146033033G>C	ENST00000359971.3	+	5	839	c.732G>C	c.(730-732)caG>caC	p.Q244H	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.Q244H	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCTTCCGGCAGAGCACGCAGC	0.687000													6	11					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782404	9782404	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:9782404G>C	ENST00000536656.1	+	18	2617	c.2409G>C	c.(2407-2409)aaG>aaC	p.K803N	PIK3CD_ENST00000377346.4_Missense_Mutation_p.K779N|PIK3CD_ENST00000361110.2_Missense_Mutation_p.K803N			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	779	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCATCTTTAAGAACGGGGATG	0.622000													3	21					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145154063	145154063	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:145154063C>T	ENST00000558170.2	-	9	4167	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E995K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E971K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E995K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	995						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATGCCACTCTCTGTCTTCTTG	0.453000													61	54					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29140641	29140641	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:29140641G>A	ENST00000216027.3	+	3	437	c.372G>A	c.(370-372)gtG>gtA	p.V124V	HSCB_ENST00000398941.2_Silent_p.V124V|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	124	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CGACCCTGGTGAATGATGCCT	0.438000													13	31					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	532572	532572	+	Silent	SNP	G	G	C	rs148394306		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:532572G>C	ENST00000230449.4	-	23	2412	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	EXOC2_ENST00000448181.3_Silent_p.L354L	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	759					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AATTTTCAAAGAGTCTTTGAT	0.383000													20	49					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715730	170715730	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:170715730C>T	ENST00000314251.3	-	11	1616	c.1537G>A	c.(1537-1539)Gta>Ata	p.V513I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.V394I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	513					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TTCATTTCTACAGCAGCTTTT	0.383000													43	56					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31958311	31958311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:31958311C>T	ENST00000357886.4	-	12	1581	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.M462I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.M372I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.M385I|CDK5RAP1_ENST00000544843.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	476	CDK5R1-binding.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCACCTGTCTCATGCTGTAGG	0.542000													36	82					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59958847	59958847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:59958847C>G	ENST00000256858.6	+	28	3792	c.3544C>G	c.(3544-3546)Ctc>Gtc	p.L1182V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.L1148V			Q9P260	K1468_HUMAN	KIAA1468	1148							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CATGGAACATCTCTCTCCAGA	0.393000													13	53					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106509608	106509608	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:106509608C>G	ENST00000233154.4	+	5	1561	c.1119C>G	c.(1117-1119)ctC>ctG	p.L373L	NCK2_ENST00000393349.2_Silent_p.L373L|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	373	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGAGAAGCTCTACCTCGTCA	0.672000													6	11					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37343123	37343123	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:37343123G>A	ENST00000394303.3	-	5	681	c.474C>T	c.(472-474)ttC>ttT	p.F158F	CACNB1_ENST00000344140.5_Silent_p.F158F|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.F158F	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	158	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGCTGGGAATGAAGCCAACCT	0.587000													40	58					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315961	50315961	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:50315961G>A	ENST00000332853.4	-	2	158	c.135C>T	c.(133-135)ctC>ctT	p.L45L	VSTM4_ENST00000298454.3_Silent_p.L45L	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4		Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGACGTGGCAGAGGAGAGTGG	0.592000													5	14					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744034	42744034	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:42744034C>A	ENST00000409122.2	+	5	897	c.755C>A	c.(754-756)aCa>aAa	p.T252K	C17orf104_ENST00000409464.1_Missense_Mutation_p.T86K|C17orf104_ENST00000359945.3_Missense_Mutation_p.T252K	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	252										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AATATTCAGACAAATGATACA	0.353000													8	10					0.000157383	0.000158762	1	1	0
EGFR	1956	broad.mit.edu	37	7	55224296	55224296	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:55224296C>A	ENST00000275493.2	+	9	1254	c.1077C>A	c.(1075-1077)ttC>ttA	p.F359L	EGFR_ENST00000420316.2_Missense_Mutation_p.F359L|EGFR_ENST00000442591.1_Missense_Mutation_p.F359L|EGFR_ENST00000342916.3_Missense_Mutation_p.F359L|EGFR_ENST00000455089.1_Missense_Mutation_p.F314L|EGFR_ENST00000454757.2_Missense_Mutation_p.F306L|EGFR_ENST00000344576.2_Missense_Mutation_p.F359L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	359					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTAAACACTTCAAAAACTGCA	0.418000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			14	56					4.3838e-07	4.48771e-07	1	1	0
CRMP1	1400	broad.mit.edu	37	4	5841313	5841313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:5841313C>T	ENST00000324989.7	-	9	1334	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	CRMP1_ENST00000512574.1_Missense_Mutation_p.V300M|CRMP1_ENST00000397890.2_Missense_Mutation_p.V302M|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	302					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGGGAAGTCACGAACGCCGCA	0.642000													5	2					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453787	453787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:453787G>A	ENST00000512944.1	+	4	856	c.667G>A	c.(667-669)Gac>Aac	p.D223N	EXOC3_ENST00000315013.5_Missense_Mutation_p.D223N	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	234					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAGAAAATTGACAGGCGCAT	0.517000													22	53					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172935695	172935695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:172935695G>A	ENST00000315796.4	+	6	988	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	201					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CAATGTGGACGAATGTGGTAA	0.413000													64	45					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43621831	43621831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:43621831C>T	ENST00000398457.2	+	2	306	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	gccctgccctcaGGTGTGGTC	0.547000													14	25					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190129905	190129905	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:190129905C>T	ENST00000367462.3	-	7	1308	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	BRINP3_ENST00000534846.1_Silent_p.E257E	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	359																	TCATGCTGTTCTCCAGTTGTT	0.388000													21	186					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987298	97987298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:97987298C>T	ENST00000224337.5	-	5	370	c.229G>A	c.(229-231)Gag>Aag	p.E77K	BLNK_ENST00000427367.2_Missense_Mutation_p.E77K|BLNK_ENST00000413476.2_Missense_Mutation_p.E77K|BLNK_ENST00000371176.2_Missense_Mutation_p.E77K	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	77					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCCGAGTGCTCATCTGGATTT	0.587000													20	70					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100995299	100995299	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:100995299G>A	ENST00000370552.3	-	1	320	c.261C>T	c.(259-261)atC>atT	p.I87I	HPSE2_ENST00000370546.1_Silent_p.I87I|HPSE2_ENST00000404542.1_Silent_p.I87I|HPSE2_ENST00000370549.1_Silent_p.I87I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	87					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATCATGAATGATGGACGGAT	0.468000													23	52					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224177	49224177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:49224177G>A	ENST00000222145.4	-	12	2974	c.2770C>T	c.(2770-2772)Cca>Tca	p.P924S		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	924					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TCCGTCACTGGACCAGTGAGG	0.667000													11	29					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928760	4928760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:4928760C>T	ENST00000359350.4	+	1	161	c.161C>T	c.(160-162)tCg>tTg	p.S54L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGAGCCCTCGCTTCATGAG	0.493000													17	70					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160750545	160750545	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:160750545A>T	ENST00000263636.4	-	3	544	c.517T>A	c.(517-519)Ttc>Atc	p.F173I	LY75_ENST00000553424.1_Missense_Mutation_p.F173I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F173I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F173I|LY75_ENST00000554112.1_Missense_Mutation_p.F173I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCAATTAAGAATGGAAATTCA	0.428000													68	24					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30795535	30795535	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:30795535T>A	ENST00000383096.3	-	19	2239	c.2057A>T	c.(2056-2058)gAt>gTt	p.D686V	CCDC178_ENST00000300227.8_Missense_Mutation_p.D648V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.D686V|CCDC178_ENST00000406524.2_Missense_Mutation_p.D686V|CCDC178_ENST00000402325.1_Missense_Mutation_p.D686V|CCDC178_ENST00000579947.1_Missense_Mutation_p.D686V|CCDC178_ENST00000583930.1_Missense_Mutation_p.D686V					coiled-coil domain containing 178																		AAGTGTCTGATCAAAACTTTT	0.214000													8	21					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401044	85401044	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:85401044G>A	ENST00000258888.5	+	6	3848	c.3681G>A	c.(3679-3681)caG>caA	p.Q1227Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1227					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTGGTGCAGAGTGCACAGA	0.672000													5	15					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705015	52705015	+	Silent	SNP	C	C	T	rs146046897	by1000genomes	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:52705015C>T	ENST00000287727.3	+	4	2098	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	ZFYVE9_ENST00000357206.2_Silent_p.V642V|ZFYVE9_ENST00000371591.1_Silent_p.V642V			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	642					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTCTAATGTCGATACAAATG	0.383000													45	62					0	0	1	0	0
YWHAZ	7534	broad.mit.edu	37	8	101932958	101932958	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:101932958C>G	ENST00000395957.2	-	7	1042	c.701G>C	c.(700-702)gGa>gCa	p.G234A	YWHAZ_ENST00000457309.1_Missense_Mutation_p.G234A|YWHAZ_ENST00000395953.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G157A|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G114A|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G234A|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G159A|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G234A|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G114A|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000395956.3_Missense_Mutation_p.G234A			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	234					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	AGCTTCGTCTCCTTGGGTATC	0.458000													32	102					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50831719	50831719	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:50831719G>A	ENST00000376959.2	-	1	784	c.621C>T	c.(619-621)ccC>ccT	p.P207P	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.P207P			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	207					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A208fs*116(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCGCCCGCGGGGTCGGGCG	0.776000													9	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594937	179594937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:179594937C>T	ENST00000589042.1	-	62	18414	c.18190G>A	c.(18190-18192)Gac>Aac	p.D6064N	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4820N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5747N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5747							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGAGGTGTCATCCTTCCAA	0.473000													13	19					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833388	37833388	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:37833388C>T	ENST00000399137.1	-	3	1472	c.606G>A	c.(604-606)acG>acA	p.T202T	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Silent_p.T202T|CLDN14_ENST00000399135.1_Silent_p.T202T|CLDN14_ENST00000399139.1_Silent_p.T202T|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.T202T	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	202					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGCAGTGGTCGTGGTGGCCC	0.657000													18	47					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74125425	74125425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:74125425C>G	ENST00000324896.4	+	9	1137	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	GTF2I_ENST00000416070.1_Missense_Mutation_p.Q250E|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.Q250E|GTF2I_ENST00000353920.4_Missense_Mutation_p.Q250E|GTF2I_ENST00000346152.4_Missense_Mutation_p.Q250E	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	250					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TGATTATTATCAATATAACAT	0.294000													14	49					0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47834186	47834186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:47834186G>A	ENST00000371873.5	+	2	366	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	41					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GCTTCGTGATGAAAGGAAGAA	0.378000													40	35					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180199688	180199688	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:180199688C>T	ENST00000263726.2	+	1	268	c.24C>T	c.(22-24)ccC>ccT	p.P8P		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CGACTGTCCCCGCGGAAGGGG	0.547000													26	26					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75185571	75185571	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:75185571C>T	ENST00000352410.4	+	5	647	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	MPI_ENST00000566377.1_Silent_p.L194L|MPI_ENST00000565576.1_Silent_p.L194L|MPI_ENST00000323744.6_Intron|MPI_ENST00000564003.1_Intron|MPI_ENST00000563786.1_Silent_p.L174L|MPI_ENST00000535694.1_Silent_p.L144L|MPI_ENST00000563422.1_Silent_p.L194L|MPI_ENST00000562606.1_Silent_p.L174L			P34949	MPI_HUMAN	mannose phosphate isomerase	194					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGCCTCCTCTCTGCAGAGCTG	0.547000													10	32					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145051534	145051534	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:145051534G>C	ENST00000367545.3	+	53	7851	c.7851G>C	c.(7849-7851)ctG>ctC	p.L2617L	UTRN_ENST00000367526.4_Silent_p.L172L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2617					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTCTGTCCTGAATGCTGTCG	0.453000													42	82					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73800452	73800452	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:73800452G>A	ENST00000264448.6	+	16	11556	c.11445G>A	c.(11443-11445)caG>caA	p.Q3815Q	ALMS1_ENST00000409009.1_Silent_p.Q3773Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3815					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAACCAACAGAGGAGATACC	0.473000													13	46					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111729243	111729243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:111729243C>T	ENST00000261726.6	+	5	477	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGTTTGAGGCGGCACGCAGC	0.652000													13	63					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84108235	84108235	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:84108235G>A	ENST00000343411.3	-	12	2055	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	520					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCATGCCGTTGAGGATGG	0.488000													25	21					0	0	1	0	0
CFL2	1073	broad.mit.edu	37	14	35182578	35182578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:35182578C>G	ENST00000341223.3	-	2	344	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CFL2_ENST00000555765.1_Missense_Mutation_p.E48Q|CFL2_ENST00000556161.1_Missense_Mutation_p.E48Q|CFL2_ENST00000298159.6_Missense_Mutation_p.E65Q	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	65	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TAGGGGTCCTCTACAGTATCA	0.403000													26	74					0	0	1	0	0
CTDSP2	10106	broad.mit.edu	37	12	58217444	58217444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:58217444C>T	ENST00000398073.2	-	8	1060	c.757G>A	c.(757-759)Gag>Aag	p.E253K	CTDSP2_ENST00000547701.1_Missense_Mutation_p.E101K|CTDSP2_ENST00000548823.1_Missense_Mutation_p.E80K	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	253	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CTCAGCTCCTCAAAGATTGGG	0.597000													12	15					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78742903	78742903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:78742903C>G	ENST00000334082.6	-	4	1802	c.360G>C	c.(358-360)aaG>aaC	p.K120N	HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.K120N|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	120					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TAAGTTCCATCTTCTCTTGTG	0.333000													13	17					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2577957	2577957	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:2577957C>T	ENST00000340611.4	-	14	2468	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	738					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCCCTGGCCTCCCGCAGGCTG	0.662000													9	37					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111416076	111416076	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:111416076T>C	ENST00000535254.1	-	12	1434	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	BUB1_ENST00000409311.1_Missense_Mutation_p.Q476R|BUB1_ENST00000302759.6_Missense_Mutation_p.Q476R	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	476					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTAGGAGCCTGAAACATATT	0.343000													15	49					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99103723	99103723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:99103723C>T	ENST00000394170.2	+	2	307	c.56C>T	c.(55-57)tCc>tTc	p.S19F	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S19F|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S19F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					GCTGAGACTTCCCAGGAGCAG	0.498000													12	67					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160767	58160767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:58160767C>T	ENST00000228606.4	-	1	267	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	20					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGCCCAACTCGGGCGCCCAG	0.622000													37	71					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164087527	164087527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:164087527G>A	ENST00000274054.2	-	1	546	c.353C>T	c.(352-354)tCg>tTg	p.S118L	NAF1_ENST00000422287.2_Missense_Mutation_p.S118L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	118	Ser-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCCGAGTCCGAATCCGAGTC	0.687000													8	7					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127684014	127684014	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:127684014C>T	ENST00000368695.1	+	4	449	c.327C>T	c.(325-327)caC>caT	p.H109H	FANK1_ENST00000368693.1_Silent_p.H115H|FANK1_ENST00000368689.1_Silent_p.H115H	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	115						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AGCACTTGCACCGGGCTGTCA	0.483000													9	40					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083639	66083639	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:66083639C>A	ENST00000311330.3	-	1	876	c.860G>T	c.(859-861)gGt>gTt	p.G287V	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	287						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TTGTGGCCCACCGGGCTCACA	0.672000													27	7					2.79863e-10	2.89933e-10	1	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													8	25					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724049	83724049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:83724049G>A	ENST00000297977.5	-	3	793	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	HDX_ENST00000373177.2_Nonsense_Mutation_p.Q228*|HDX_ENST00000506585.2_Nonsense_Mutation_p.Q170*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGACCTTTGAATCCCAACT	0.413000													51	54					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82996933	82996933	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:82996933G>A	ENST00000529689.1	-	1	517	c.83C>T	c.(82-84)tCg>tTg	p.S28L	CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000529073.1_Missense_Mutation_p.S28L			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	28						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				CAGGGCCGGCGAGAAATGCCC	0.622000													4	4					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941475	153941475	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:153941475G>A	ENST00000368607.3	+	3	510	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	CREB3L4_ENST00000368601.1_Missense_Mutation_p.E82K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E62K|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E82K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E82K	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	82					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTACTGCTCAGAAGCATCTCC	0.502000													4	61					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121468867	121468867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:121468867C>A	ENST00000305949.1	+	7	749	c.704C>A	c.(703-705)tCa>tAa	p.S235*		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	235					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313000													30	149					3.99451e-17	4.20763e-17	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25981237	25981237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:25981237G>A	ENST00000356865.6	-	3	817	c.706C>T	c.(706-708)Cca>Tca	p.P236S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	236					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGTTGTTTGGCTTCTCGCAT	0.498000													11	19					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120146118	120146118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:120146118C>G	ENST00000392521.2	-	40	5132	c.5077G>C	c.(5077-5079)Gag>Cag	p.E1693Q	CIT_ENST00000261833.7_Missense_Mutation_p.E1651Q|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1651	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGTGCCCGCTCTTCTCCTGAA	0.507000													6	38					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080552	6080552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:6080552C>T	ENST00000199389.6	-	9	1236	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E240K	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	364	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTGACATTTTCTTCGGAAGAT	0.493000													61	60					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70161220	70161220	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:70161220G>A	ENST00000288050.4	+	4	1242	c.285G>A	c.(283-285)ttG>ttA	p.L95L	PDPR_ENST00000398122.3_5'UTR|PDPR_ENST00000568530.1_Silent_p.L95L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	95					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCAGGCACTTGACCATTGAGC	0.468000													13	90					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971823	118971823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:118971823C>T	ENST00000409993.2	-	4	1738	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	DPAGT1_ENST00000354202.4_Missense_Mutation_p.G63S|DPAGT1_ENST00000432443.2_Intron|DPAGT1_ENST00000445653.1_Intron			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	63					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAAACAGCACCGCTGATCACT	0.552000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167778995	167778995	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:167778995C>T	ENST00000367848.1	-	33	4974	c.4477G>A	c.(4477-4479)Gta>Ata	p.V1493I	ADCY10_ENST00000367851.4_Missense_Mutation_p.V1585I|ADCY10_ENST00000545172.1_Missense_Mutation_p.V1432I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1585					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGCCTGCTACAATTTTTTCC	0.383000													132	50					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273885	100273885	+	RNA	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:100273885C>G	ENST00000515683.1	-	0	299				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGTGGATTTCTTCTCTGCTT	0.378000													19	50					0	0	1	0	0
FAM49B	51571	broad.mit.edu	37	8	130874493	130874493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:130874493C>T	ENST00000519824.2	-	5	556	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	FAM49B_ENST00000517654.1_Missense_Mutation_p.E95K|FAM49B_ENST00000519540.1_Missense_Mutation_p.E95K|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.E95K|FAM49B_ENST00000519110.1_Missense_Mutation_p.E95K|FAM49B_ENST00000522746.1_Missense_Mutation_p.E95K|FAM49B_ENST00000401979.2_Missense_Mutation_p.E95K|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000522250.1_5'UTR	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	95										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TGAGAAAATTCGTAAAATTTC	0.358000													22	52					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25523026	25523026	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:25523026C>T	ENST00000264709.3	-	3	496	c.159G>A	c.(157-159)agG>agA	p.R53R	DNMT3A_ENST00000321117.5_Silent_p.R53R|DNMT3A_ENST00000406659.3_Silent_p.R53R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	53					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGCGCTTCCTCCCAGGCC	0.647000			"""Mis, F, N, S"""		AML								14	28					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43453837	43453837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:43453837C>T	ENST00000500337.2	-	4	566	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	C5orf28_ENST00000397080.3_Missense_Mutation_p.E79K|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000512085.1_Missense_Mutation_p.E79K			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	79						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAAATGATTTCTCCAAAGTCA	0.393000													7	59					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114541062	114541062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:114541062G>A	ENST00000357389.3	-	6	721	c.569C>T	c.(568-570)tCt>tTt	p.S190F	GAS6_ENST00000355761.4_Missense_Mutation_p.S136F|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.S190F			Q14393	GAS6_HUMAN	growth arrest-specific 6	190	EGF-like 2; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCTGCCATCAGAGGAGAGCTC	0.597000													25	24					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140850223	140850223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:140850223G>A	ENST00000371372.1	+	8	1289	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	CACNA1B_ENST00000371357.1_Missense_Mutation_p.E382K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E382K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E382K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E382K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	382	Binding to the beta subunit (By similarity).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAGCAGATCGAGCGAGAGCT	0.642000													7	6					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583103	11583103	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:11583103A>G	ENST00000262442.4	+	18	3451	c.3383A>G	c.(3382-3384)aAg>aGg	p.K1128R	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1128R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTATAAAGAAGAGTGAGAGC	0.428000													18	45					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804819	89804819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:89804819C>T	ENST00000310775.7	+	5	378	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	FANCI_ENST00000567996.1_Missense_Mutation_p.H98Y|FANCI_ENST00000300027.8_Missense_Mutation_p.H98Y|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	98					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTTTAGGCTCACCATTTTCC	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	95					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022802	76022802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:76022802G>T	ENST00000393004.2	-	5	2967	c.2746C>A	c.(2746-2748)Cca>Aca	p.P916T	FILIP1_ENST00000370020.1_Missense_Mutation_p.P817T|FILIP1_ENST00000237172.7_Missense_Mutation_p.P916T|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	916										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCGTGGTCTGGTGTCACTCGA	0.507000													33	70					1.22384e-17	1.2911e-17	1	1	0
SLC16A5	9121	broad.mit.edu	37	17	73096140	73096140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:73096140G>A	ENST00000450736.2	+	4	797	c.382G>A	c.(382-384)Gtg>Atg	p.V128M	SLC16A5_ENST00000580123.1_Missense_Mutation_p.V128M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.V168M|SLC16A5_ENST00000329783.4_Missense_Mutation_p.V128M			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	128					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AAGCATCACGGTGCTGGGCTT	0.677000													29	56					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359098	64359098	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:64359098C>G	ENST00000377574.1	+	1	817	c.70C>G	c.(70-72)Ctg>Gtg	p.L24V	SLC22A12_ENST00000377567.2_Missense_Mutation_p.L24V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.L24V|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Missense_Mutation_p.L24V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	24					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GACGATGGCTCTGATGGTCTC	0.617000													23	97					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463379	241463379	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:241463379C>T	ENST00000391987.1	-	8	1854	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	ANKMY1_ENST00000272972.3_Silent_p.L496L|ANKMY1_ENST00000361678.4_Silent_p.L355L|ANKMY1_ENST00000406958.1_Silent_p.L257L|ANKMY1_ENST00000373318.2_Silent_p.L355L|ANKMY1_ENST00000536462.1_Silent_p.L308L|ANKMY1_ENST00000373320.4_Silent_p.L266L|ANKMY1_ENST00000401804.1_Silent_p.L585L|ANKMY1_ENST00000403283.1_Silent_p.L434L|ANKMY1_ENST00000405002.1_Silent_p.L266L|ANKMY1_ENST00000405523.3_Silent_p.L355L	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	496							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGCCATCTTCAGCAAGCTGT	0.597000													54	9					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732696	92732696	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:92732696C>T	ENST00000379958.2	-	3	2984	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	905						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGCCCTTTCAGGATATTCC	0.338000													4	54					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69230498	69230498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:69230498C>T	ENST00000462284.1	+	10	1189	c.887C>T	c.(886-888)tCa>tTa	p.S296L	MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S241L|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S95L|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S235L|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S120L|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S95L|MDM2_ENST00000350057.5_Missense_Mutation_p.S265L|MDM2_ENST00000356290.4_Missense_Mutation_p.S120L	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	290	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GATACAGATTCATTTGAAGAA	0.323000			A		"""sarcoma, glioma, colorectal, other"""								41	3067					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067555	190067555	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:190067555G>T	ENST00000367462.3	-	8	2125	c.1894C>A	c.(1894-1896)Cgc>Agc	p.R632S	BRINP3_ENST00000534846.1_Missense_Mutation_p.R530S	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	632								p.R632C(1)									GACTTGATGCGACTTCTCAGG	0.423000													20	285					1.55795e-14	1.6336e-14	1	1	0
MAP3K10	4294	broad.mit.edu	37	19	40715113	40715113	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:40715113G>A	ENST00000253055.3	+	6	1827	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	513					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCCCCCGGCTGAGGGCCATTC	0.552000													24	31					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227434	149227434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:149227434G>A	ENST00000407073.1	+	9	2919	c.1922G>A	c.(1921-1923)cGa>cAa	p.R641Q	MBD5_ENST00000404807.1_Missense_Mutation_p.R641Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	641						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAAGTGGTCGAGCAGCACTA	0.483000													27	68					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150932354	150932354	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:150932354G>C	ENST00000035307.2	+	2	1997	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	CHPF2_ENST00000495645.1_Missense_Mutation_p.E154Q	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	162						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTCATGTCAGAGACCCTGCG	0.637000													7	51					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120886110	120886110	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:120886110C>T	ENST00000286234.5	+	1	154	c.24C>T	c.(22-24)ggC>ggT	p.G8G	KB-1471A8.1_ENST00000500705.3_lincRNA|DEPTOR_ENST00000523492.1_Silent_p.G8G	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	8					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GCAGCACTGGCAGTGCTGGCA	0.662000													24	34					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102127436	102127436	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:102127436C>G	ENST00000392927.3	-	6	501	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	SYCP3_ENST00000392924.1_Missense_Mutation_p.E124Q|SYCP3_ENST00000266743.2_Missense_Mutation_p.E124Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	124	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TGAGAATATTCTTGGTTAAGC	0.308000													12	103					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101690	58101690	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:58101690G>C	ENST00000597850.1	+	4	726	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.E116Q|ZIK1_ENST00000536878.2_Missense_Mutation_p.E158Q	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCGCAAATGGGAGGTTGGAAA	0.502000													6	53					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65546637	65546637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65546637C>T	ENST00000532090.2	-	2	1537	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	386							protein binding			lung(1)	1						GCCAGCAGCTCTTCCAGGTAG	0.657000													6	23					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61649158	61649158	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:61649158A>G	ENST00000381103.2	+	7	939	c.454A>G	c.(454-456)Aaa>Gaa	p.K152E	KIF2A_ENST00000407818.3_Missense_Mutation_p.K172E|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.K172E|KIF2A_ENST00000506857.1_Missense_Mutation_p.K126E	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	172	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAAACGAGAGAAAAGGAGATT	0.318000													4	2					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586225	53586225	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:53586225T>C	ENST00000267082.5	-	14	2275	c.2044A>G	c.(2044-2046)Atc>Gtc	p.I682V	ITGB7_ENST00000422257.3_Missense_Mutation_p.I682V|ITGB7_ENST00000550743.2_Missense_Mutation_p.I534V|ITGB7_ENST00000338737.4_Missense_Mutation_p.I534V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	682					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCATCCAAGATAGGGGCCAAG	0.592000													4	67					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548069	23548069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:23548069G>A	ENST00000262710.1	-	7	2468	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Missense_Mutation_p.S656L|ACIN1_ENST00000457657.1_Missense_Mutation_p.S674L|ACIN1_ENST00000555053.1_Missense_Mutation_p.S714L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	714					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTTCAGCTGATTCAGGCTG	0.537000													5	18					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17975110	17975110	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:17975110C>T	ENST00000361221.3	+	22	2493	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.F739F|ARHGEF10L_ENST00000375415.1_Silent_p.F739F|ARHGEF10L_ENST00000434513.1_Silent_p.F773F|ARHGEF10L_ENST00000167825.4_Silent_p.F481F|ARHGEF10L_ENST00000375408.3_Silent_p.F551F	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	778					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGCCCCATTCTGGTGCCCGA	0.622000													8	40					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373926	126373926	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:126373926C>T	ENST00000394329.3	+	9	11768	c.11755C>T	c.(11755-11757)Cca>Tca	p.P3919S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2217S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3919	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATTTTCCAGGAAGCTT	0.448000													18	57					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126369555	126369555	+	Silent	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:126369555T>A	ENST00000287437.3	+	6	729	c.513T>A	c.(511-513)atT>atA	p.I171I	NSMCE2_ENST00000517315.1_Silent_p.I111I|NSMCE2_ENST00000522563.1_Silent_p.I171I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	171					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCTGCCCCATTACAAAGGTAC	0.463000													10	33					0	0	1	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903212	41903212	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:41903212C>A	ENST00000221233.4	-	1	172	c.22G>T	c.(22-24)Gac>Tac	p.D8Y	CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.D8Y|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	8					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ATTTTGGCGTCAGTATGCGTC	0.652000													46	74					1.62263e-30	1.7303e-30	1	1	0
C22orf23	84645	broad.mit.edu	37	22	38341118	38341118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:38341118C>T	ENST00000249079.2	-	5	668	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	C22orf23_ENST00000403026.1_Missense_Mutation_p.E138K|C22orf23_ENST00000403305.1_Missense_Mutation_p.E138K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	138										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTTCCGTTCCTCCATGTCC	0.517000													36	41					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110897256	110897256	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:110897256G>A	ENST00000265171.5	+	13	2363	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	EGF_ENST00000503392.1_Missense_Mutation_p.D640N|EGF_ENST00000509793.1_Missense_Mutation_p.D598N	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	640					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGCCAGCTCTGATCTAATCTG	0.448000													30	68					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236883473	236883473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:236883473C>T	ENST00000366578.4	+	4	596	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q144*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	144	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTTGCTATTCAGGATATTTC	0.333000													14	61					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680017	42680017	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:42680017C>A	ENST00000232978.8	+	13	3009	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	941					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAATACTTCACTGCCTGATGA	0.453000													7	37					0.00448238	0.00449539	1	1	0
C1orf95	375057	broad.mit.edu	37	1	226784666	226784666	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:226784666C>G	ENST00000366789.4	+	2	471	c.366C>G	c.(364-366)gaC>gaG	p.D122E	C1orf95_ENST00000366788.3_Missense_Mutation_p.D122E			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	122						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGGGCATGGACATGGTCATCC	0.592000													13	45					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109464	119109464	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:119109464T>C	ENST00000328252.3	+	15	4309	c.3940T>C	c.(3940-3942)Tgc>Cgc	p.C1314R	PAPPA_ENST00000534838.1_Missense_Mutation_p.C352R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1314	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTCCTTCCAGTGCCGTCACCC	0.542000													25	3					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186055476	186055476	+	Missense_Mutation	SNP	G	G	C	rs143661563		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:186055476G>C	ENST00000271588.4	+	58	9212	c.8983G>C	c.(8983-8985)Gac>Cac	p.D2995H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2995H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2995	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCACCTCCTGACCTCAGCTG	0.423000													12	25					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460817	5460817	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:5460817C>A	ENST00000296564.7	+	13	1592	c.1370C>A	c.(1369-1371)tCc>tAc	p.S457Y		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	457										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCCACACACTCCTTAGTTGGT	0.418000													11	19					2.27111e-07	2.32839e-07	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68257362	68257362	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:68257362C>T	ENST00000347230.4	-	15	2820	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	ZFYVE26_ENST00000555452.1_Silent_p.A894A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	894					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCTGCTACCCGCATCTGAGT	0.547000													6	103					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031533	43031533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:43031533C>T	ENST00000161559.6	-	2	218	c.84G>A	c.(82-84)tgG>tgA	p.W28*	CEACAM1_ENST00000308072.4_5'UTR|CEACAM1_ENST00000599389.1_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000403444.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000358394.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000351134.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000403461.1_Nonsense_Mutation_p.W28*|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Nonsense_Mutation_p.W28*	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	28					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGCGGGTTCCAGAAGGTTA	0.527000													20	125					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132441124	132441124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:132441124C>T	ENST00000326682.8	-	1	152	c.76G>A	c.(76-78)Gag>Aag	p.E26K	NPHP3_ENST00000337331.5_Missense_Mutation_p.E26K|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Missense_Mutation_p.E26K|NPHP3_ENST00000343113.4_Missense_Mutation_p.E26K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	26					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGCAGGCCTCGCCGCCGCCC	0.751000													7	1					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486570	76486570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:76486570C>T	ENST00000307431.8	+	9	1619	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Q364*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Q340*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Q416*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	413	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGTGAACTTCAGCTGATTTC	0.453000													5	53					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126145304	126145304	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:126145304C>T	ENST00000263578.5	+	6	788	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.F224F|FOXRED1_ENST00000442061.2_Silent_p.F68F	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	238						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GAGTCCTTTTCTGCCAGGGAG	0.532000													45	75					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89807248	89807248	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:89807248C>G	ENST00000310775.7	+	8	746	c.660C>G	c.(658-660)ctC>ctG	p.L220L	FANCI_ENST00000567996.1_Silent_p.L220L|FANCI_ENST00000300027.8_Silent_p.L220L|FANCI_ENST00000451393.2_Silent_p.L41L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	220					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCTGGTTCTCTCCTCCAAGG	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	54					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67034809	67034809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:67034809C>T	ENST00000540947.2	+	4	636	c.452C>T	c.(451-453)tCg>tTg	p.S151L	CES4A_ENST00000326686.5_Missense_Mutation_p.S151L|CES4A_ENST00000540579.1_Missense_Mutation_p.S53L|CES4A_ENST00000398354.1_Missense_Mutation_p.S151L|CES4A_ENST00000338718.4_Missense_Mutation_p.S174L|CES4A_ENST00000541479.1_Missense_Mutation_p.S174L|CES4A_ENST00000535696.1_Missense_Mutation_p.S53L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	151						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCTGCTTCTTCGTACGAGGGC	0.672000													7	18					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122283456	122283456	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:122283456G>A	ENST00000296161.4	+	1	372	c.183G>A	c.(181-183)agG>agA	p.R61R	DTX3L_ENST00000383661.3_Silent_p.R61R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	61					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TCAGTGAAAGGGCAGGTGAGC	0.687000													13	26					0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40971569	40971569	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:40971569G>A	ENST00000263368.4	-	1	178	c.27C>T	c.(25-27)ttC>ttT	p.F9F	BLVRB_ENST00000595483.1_Silent_p.F9F	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	9					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	CAGTGGCGCCGAAGATCGCGA	0.697000													10	18					0	0	1	0	0
C1orf100	200159	broad.mit.edu	37	1	244541775	244541775	+	Silent	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:244541775C>A	ENST00000308105.4	+	4	272	c.159C>A	c.(157-159)ctC>ctA	p.L53L	RP11-518L10.5_ENST00000417765.1_RNA|C1orf100_ENST00000366537.1_Intron	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	53										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			TTAGACCGCTCATAGACTTGA	0.408000													10	48					7.03913e-09	7.24894e-09	1	1	0
HELLS	3070	broad.mit.edu	37	10	96306213	96306213	+	Silent	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:96306213T>C	ENST00000348459.5	+	2	216	c.111T>C	c.(109-111)ctT>ctC	p.L37L	HELLS_ENST00000371332.4_Silent_p.L37L|HELLS_ENST00000239026.6_Silent_p.L37L|HELLS_ENST00000394044.1_Silent_p.L37L|HELLS_ENST00000394045.1_Silent_p.L37L|HELLS_ENST00000394036.1_Silent_p.L37L	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	37					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAACAGCTTGAAGCTGCTG	0.527000													17	40					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73944430	73944430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:73944430G>A	ENST00000537812.1	-	13	2371	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	ACOX1_ENST00000301608.4_Nonsense_Mutation_p.Q613*|ACOX1_ENST00000293217.5_Nonsense_Mutation_p.Q613*	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	613					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GTCACATCCTGAAAATCAAAT	0.453000													67	96					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170706	42170706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:42170706G>A	ENST00000320955.6	-	17	3531	c.3304C>T	c.(3304-3306)Cag>Tag	p.Q1102*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1102					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGGGCCTGAGTCTCAGCC	0.627000													3	20					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095422	107095422	+	RNA	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:107095422G>C	ENST00000390630.2	-	0	158																											AGCTGCACCTGGGACAGGACC	0.617000													14	30					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236774	53236774	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:53236774C>G	ENST00000294353.6	+	3	424	c.279C>G	c.(277-279)atC>atG	p.I93M	ZYG11B_ENST00000545132.1_Missense_Mutation_p.I93M|ZYG11B_ENST00000443756.2_Missense_Mutation_p.I93M	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	93							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AAGCAAAGATCTCTGCTGTTG	0.453000													52	75					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25312940	25312940	+	RNA	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:25312940G>A	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA																							TGCTTGGATCGATGATGAGTC	0.502000													35	82					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170935	100170935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:100170935G>A	ENST00000409236.2	-	22	3509	c.3397C>T	c.(3397-3399)Cag>Tag	p.Q1133*	AFF3_ENST00000356421.2_Nonsense_Mutation_p.Q1158*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.Q1133*|AFF3_ENST00000409579.1_Nonsense_Mutation_p.Q1158*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGGCTGCCCTGAGACCCCACG	0.642000													22	30					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681504	67681504	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:67681504A>T	ENST00000334583.6	+	11	1198	c.870A>T	c.(868-870)cgA>cgT	p.R290R	RLTPR_ENST00000545661.1_Splice_Site_p.R290R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	290										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGATGACCGAGGTATGACTG	0.662000													5	9					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350751	101350751	+	Silent	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:101350751T>C	ENST00000534062.1	-	1	433	c.375A>G	c.(373-375)tcA>tcG	p.S125S		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	125										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ATGGGTTGACTGATGCTTCTT	0.542000													4	13					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131206307	131206307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:131206307G>A	ENST00000337057.3	-	12	1943	c.1762C>T	c.(1762-1764)Caa>Taa	p.Q588*	EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.Q588*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	588	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCCCATCTTGTACCACGGCA	0.493000											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	81					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081110	54081110	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:54081110C>T	ENST00000394705.2	-	2	1054	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	262						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGATGGGATCTCCACCTCCC	0.542000													10	35					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								40	25					0	0	1	0	0
CD52	1043	broad.mit.edu	37	1	26646662	26646662	+	Splice_Site	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:26646662A>G	ENST00000374213.2	+	2	116	c.55A>G	c.(55-57)Ata>Gta	p.I19V		NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	19					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CCTCCTACAGATACAAACTGG	0.488000													13	17					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44113619	44113619	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:44113619G>A	ENST00000242248.5	-	9	1178	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	POLM_ENST00000395831.3_Silent_p.L279L|POLM_ENST00000335195.6_Silent_p.L322L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	359					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GGTACAGGATGAGGCCCTGTG	0.627000								DNA polymerases (catalytic subunits)					6	21					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100125721	100125721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:100125721C>T	ENST00000372966.3	-	2	333	c.128G>A	c.(127-129)aGa>aAa	p.R43K	NOX1_ENST00000372964.1_Missense_Mutation_p.R43K|NOX1_ENST00000372960.4_Missense_Mutation_p.R43K|NOX1_ENST00000217885.5_Missense_Mutation_p.R43K	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	43					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGGATTTTTCTTGTGTAGTA	0.398000													58	8					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091126	106091126	+	RNA	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:106091126C>G	ENST00000390543.2	-	0	670																											CTGTGGCTCTCGGGGCTGCCC	0.652000													30	136					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604385	29604385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:29604385C>T	ENST00000318184.5	-	22	2647	c.2648G>A	c.(2647-2649)aGt>aAt	p.S883N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	883	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTTGCCATACTGCTTGCTGA	0.423000													15	34					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171431779	171431779	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:171431779A>G	ENST00000356327.5	-	9	885	c.815T>C	c.(814-816)aTt>aCt	p.I272T	PLD1_ENST00000342215.6_Missense_Mutation_p.I272T|PLD1_ENST00000351298.4_Missense_Mutation_p.I272T|PLD1_ENST00000340989.4_Missense_Mutation_p.I272T	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	272	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GACGAAGGCAATGGCACCGCT	0.358000													36	29					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49659663	49659663	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:49659663G>A	ENST00000299338.6	-	13	1556	c.1253C>T	c.(1252-1254)aCt>aTt	p.T418I		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GAATATCTTAGTGAGTTTAAT	0.303000													15	37					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027455	40027455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:40027455C>T	ENST00000181839.4	+	2	2074	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.S490L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	490					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAAAAGCTTCAAACACTTCT	0.478000													18	19					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854185	12854185	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:12854185G>C	ENST00000332296.7	+	3	512	c.409G>C	c.(409-411)Gac>Cac	p.D137H		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	137										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCAGAGGACTGTCCAAG	0.547000													9	403					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:55450851G>A	ENST00000588756.1	-	6	1822	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R474C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632000													13	38					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17741475	17741475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:17741475G>T	ENST00000428389.2	-	30	3776	c.3777C>A	c.(3775-3777)gaC>gaA	p.D1259E	UNC13A_ENST00000519716.2_Missense_Mutation_p.D1171E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1169E|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1171E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1171E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1171E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1171					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATCCTTCTTGTCTCGCTCCA	0.537000													24	25					1.17739e-12	1.2327e-12	1	1	0
E2F8	79733	broad.mit.edu	37	11	19256301	19256301	+	Silent	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:19256301T>C	ENST00000527884.1	-	5	988	c.756A>G	c.(754-756)gaA>gaG	p.E252E	E2F8_ENST00000250024.4_Silent_p.E252E|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	252					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCCCGAAATTCCACTCCAG	0.448000													21	21					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234402151	234402151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:234402151G>A	ENST00000251722.6	-	25	2951	c.2834C>T	c.(2833-2835)tCa>tTa	p.S945L	USP40_ENST00000409945.1_Missense_Mutation_p.S121L|USP40_ENST00000450966.1_Missense_Mutation_p.S957L|USP40_ENST00000427112.2_Missense_Mutation_p.S945L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	945					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGTGTCCTGAGGGACCCTG	0.493000													19	4					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36229402	36229402	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:36229402A>T	ENST00000222270.7	+	37	8092	c.8092A>T	c.(8092-8094)Agc>Tgc	p.S2698C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S2698C	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CGAGGATGCCAGCAACAAGCT	0.622000													3	28					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65546814	65546814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65546814C>T	ENST00000532090.2	-	2	1360	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	327							protein binding			lung(1)	1						TCCTCACCTTCAGGGCCCAGC	0.657000													5	28					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44936521	44936521	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:44936521G>A	ENST00000291187.4	-	5	436	c.114C>T	c.(112-114)gaC>gaT	p.D38D	ZNF229_ENST00000588931.1_Silent_p.D38D|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCACAGCCACGTCCTTGAAGC	0.448000													5	100					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360687	95360687	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:95360687G>A	ENST00000371467.1	-	2	418	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RBP4_ENST00000371464.3_Silent_p.F33F|RBP4_ENST00000371469.2_Silent_p.F31F|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	33					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	GAGCCTTGTCGAAGTTCTCCT	0.731000													11	24					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218458681	218458681	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:218458681C>G	ENST00000366932.3	+	1	53	c.23C>G	c.(22-24)tCa>tGa	p.S8*		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	8						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCTCCGGACTCACGTGTGAGT	0.547000													8	26					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36228727	36228727	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:36228727G>A	ENST00000486278.2	-	7	774	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000344691.4_Intron			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	357	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						tgaggataccgaggccaggtc	0.393000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								16	40					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29927436	29927436	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:29927436A>G	ENST00000256255.6	-	3	679	c.422T>C	c.(421-423)cTt>cCt	p.L141P	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	141						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CTGCAGGCCAAGTTCTGTATA	0.438000													20	38					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135298916	135298916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:135298916C>T	ENST00000285968.6	+	23	3231	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1069					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGTCATATATCAGTTATGTGC	0.353000													10	65					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394530	233394530	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:233394530C>T	ENST00000258229.9	-	5	1312	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGAAGTATCGATGAGAGTA	0.502000													27	47					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133234465	133234465	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:133234465C>G	ENST00000320574.5	-	27	3410	c.3367G>C	c.(3367-3369)Gat>Cat	p.D1123H	POLE_ENST00000535270.1_Missense_Mutation_p.D1096H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1123					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCGAATATCAAAGTCTTGA	0.458000								DNA polymerases (catalytic subunits)					19	96					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58903248	58903248	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:58903248G>A	ENST00000260408.3	-	13	2197	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.S284F|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	585	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTGCCATCAGAACTGGCACA	0.333000													43	48					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48190870	48190870	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:48190870C>T	ENST00000080059.7	-	7	632	c.633G>A	c.(631-633)agG>agA	p.R211R	HDAC7_ENST00000380610.4_Silent_p.R228R|HDAC7_ENST00000552960.1_Silent_p.R194R|HDAC7_ENST00000354334.3_Silent_p.R211R|HDAC7_ENST00000427332.2_Silent_p.R172R	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	172	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GTGGATTCTTCCTCCGCTCCA	0.662000													17	16					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62343411	62343411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:62343411G>A	ENST00000476907.1	-	9	2471	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.L632F			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	594					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTGCAGAAGAGGGAGCAGC	0.647000													15	30					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854429	89854429	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:89854429G>C	ENST00000287908.3	+	2	426	c.33G>C	c.(31-33)aaG>aaC	p.K11N	STEAP2_ENST00000402625.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394626.1_Missense_Mutation_p.K11N|STEAP2_ENST00000394632.1_Missense_Mutation_p.K11N|STEAP2_ENST00000394629.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394621.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394622.2_Missense_Mutation_p.K11N	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	11					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GAAGCCCTAAGAGCCTTAGTG	0.403000													30	92					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56103936	56103936	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:56103936G>C	ENST00000221665.3	-	3	1460	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGTGGCGCTTGAGGTAGCACT	0.662000													4	11					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60059808	60059808	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:60059808C>T	ENST00000397786.2	-	16	3632	c.3556G>A	c.(3556-3558)Gat>Aat	p.D1186N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1186					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCAAATCATCAGATAATTTT	0.378000													36	50					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116446394	116446394	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:116446394G>A	ENST00000281928.3	-	10	2030	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	608					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTCTGCCATGAGAGGCAGTC	0.522000													11	27					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14536401	14536401	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:14536401C>T	ENST00000273083.3	-	0	2984							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTGGCCCATCAGGGCGCACA	0.612000													67	27					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056704	53056704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:53056704C>T	ENST00000359798.4	+	5	715	c.535C>T	c.(535-537)Caa>Taa	p.Q179*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATTGCTAATCAACTTGAGAA	0.388000													38	141					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522235	97522235	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:97522235A>G	ENST00000375315.2	+	1	170	c.170A>G	c.(169-171)aAt>aGt	p.N57S	C9orf3_ENST00000297979.5_Missense_Mutation_p.N57S|C9orf3_ENST00000277198.2_Missense_Mutation_p.N57S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	57					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGAAACAGAATAGCTCTATT	0.438000													15	26					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41289748	41289748	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:41289748G>A	ENST00000361937.3	-	29	3973	c.3549C>T	c.(3547-3549)atC>atT	p.I1183I	INO80_ENST00000401393.3_Silent_p.I1183I|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1183	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGTGAGATTGATACCCAGTC	0.383000													26	16					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73974761	73974761	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:73974761C>T	ENST00000537812.1	-	2	657	c.9G>A	c.(7-9)ctG>ctA	p.L3L	ACOX1_ENST00000301608.4_Silent_p.L41L|ACOX1_ENST00000293217.5_Silent_p.L41L|ACOX1_ENST00000591857.1_5'UTR	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	41					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGGGTCGTTCAGGATCATGT	0.512000													19	56					0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41946857	41946857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:41946857C>T	ENST00000372587.4	-	4	421	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	118					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGCCCCGGCTTCAGTCCTA	0.637000													11	35					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459151	53459151	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:53459151C>T	ENST00000331173.4	-	1	204	c.159G>A	c.(157-159)acG>acA	p.T53T	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	53	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGGTTTTCCCGTCTCTCTAT	0.532000													25	65					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49575432	49575432	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:49575432C>G	ENST00000221444.1	-	1	766	c.411G>C	c.(409-411)gaG>gaC	p.E137D		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	137						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCTGAGAGCTCTCGGGAAACT	0.711000													6	51					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598812	101598812	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:101598812C>T	ENST00000335681.5	+	16	1887	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	NPAS2_ENST00000542504.1_Silent_p.L599L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	534					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGCAGCTCTGCCTGGTCC	0.622000													5	36					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453358	195453358	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:195453358C>T	ENST00000320736.6	+	3	1497	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	MUC20_ENST00000447234.2_Silent_p.I628I|MUC20_ENST00000436408.1_Silent_p.I628I|MUC20_ENST00000445522.2_Silent_p.I593I			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	628	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TAGCCAAGATCACAACCTCAG	0.622000													24	52					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724252	112724252	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:112724252A>T	ENST00000369452.4	+	2	481	c.136A>T	c.(136-138)Aaa>Taa	p.K46*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.K46*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	46					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ACCTAAGACCAAAGGGAAAGA	0.468000													10	26					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637196	18637196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:18637196C>T	ENST00000336349.5	-	3	860	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	209										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTTTCGTTCAAGGAATTCT	0.438000													43	109					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16178467	16178467	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:16178467G>A	ENST00000538887.1	+	1	120	c.33G>A	c.(31-33)ctG>ctA	p.L11L	TPM4_ENST00000344824.6_Silent_p.L11L			P67936	TPM4_HUMAN	tropomyosin 4	136					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						TGCAGATGCTGAAGTTGGACA	0.657000			T	ALK	ALCL								18	41					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028551	142028551	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:142028551C>T	ENST00000390353.2	+	0	342																											AGTTCTCGCTCAGGCTGGAGT	0.527000													66	69					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228207527	228207527	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:228207527G>C	ENST00000353339.3	+	7	1026	c.585G>C	c.(583-585)ccG>ccC	p.P195P	MFF_ENST00000354503.6_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Silent_p.P195P|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000337110.7_Silent_p.P169P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	195						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TTTCTGCACCGGAGTACACGT	0.348000													51	50					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938652	101938652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:101938652G>A	ENST00000348070.1	-	8	949	c.950C>T	c.(949-951)cCc>cTc	p.P317L	PCSK6_ENST00000398181.2_Missense_Mutation_p.P317L|PCSK6_ENST00000358417.3_Missense_Mutation_p.P317L|PCSK6_ENST00000344273.2_Missense_Mutation_p.P317L|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.P152L	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	318	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTCGGCCGGGCCCGTCCAC	0.577000													20	64					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2058337	2058337	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:2058337A>G	ENST00000382203.1	+	8	1603	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C	SMARCA2_ENST00000349721.2_Missense_Mutation_p.Y465C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Y465C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Y465C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	465	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTTAAGGAATATCATCGGTCT	0.428000													38	52					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718694	107718694	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:107718694C>G	ENST00000445937.1	+	9	1206	c.945C>G	c.(943-945)atC>atG	p.I315M	OXR1_ENST00000442977.2_Missense_Mutation_p.I316M|OXR1_ENST00000531443.1_Missense_Mutation_p.I315M|OXR1_ENST00000517566.2_Missense_Mutation_p.I315M|OXR1_ENST00000312046.6_Missense_Mutation_p.I308M|OXR1_ENST00000497705.1_Missense_Mutation_p.I248M|OXR1_ENST00000452423.2_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	316					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACTCAAGAATCCGAGATGCAG	0.423000													6	69					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268709	65268709	+	RNA	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65268709G>C	ENST00000534336.1	+	0	3477					NR_002819.2																						TTTTTTGTGGGGGTGGGGGCA	0.393000													8	48					0	0	1	0	0
C20orf201	198437	broad.mit.edu	37	20	62714779	62714779	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:62714779C>T	ENST00000308906.2	-	2	821	c.682G>A	c.(682-684)Gag>Aag	p.E228K	OPRL1_ENST00000355631.4_Intron|OPRL1_ENST00000336866.2_Intron|C20orf201_ENST00000302096.4_3'UTR	NM_001007125.1	NP_001007126.1	Q8TD35	CT201_HUMAN	chromosome 20 open reading frame 201	38																	CGCACACTCTCAGTCGCCGTC	0.647000													6	14					0	0	1	0	0
CXCL1	2919	broad.mit.edu	37	4	74735502	74735502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:74735502G>A	ENST00000395761.3	+	2	284	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	73					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCCCAAACCGAAGTCATGTA	0.652000													16	57					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168542	171168542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:171168542G>C	ENST00000441535.1	+	5	659	c.542G>C	c.(541-543)gGa>gCa	p.G181A	FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G181A|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	181					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCCAGATGGATTTGAGGGA	0.483000													5	117					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265857	40265857	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:40265857C>T	ENST00000263791.5	+	11	1768	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	EIF2AK4_ENST00000382727.2_Silent_p.F575F|EIF2AK4_ENST00000559624.1_Silent_p.F575F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	575					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGCTGCCTTCTTTAGTGAGA	0.433000													61	63					0	0	1	0	0
BAG2	9532	broad.mit.edu	37	6	57037562	57037562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:57037562G>A	ENST00000370693.5	+	1	439	c.67G>A	c.(67-69)Gac>Aac	p.D23N	RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	23					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTCCATGGCTGACCGCTCCAG	0.687000													7	11					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532657	50532657	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:50532657G>C	ENST00000374144.3	+	3	2355	c.2067G>C	c.(2065-2067)caG>caC	p.Q689H	C10orf71_ENST00000323868.4_Missense_Mutation_p.Q689H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	689								p.Q689Q(2)		endometrium(1)	1						CAGGACTTCAGAACACACATT	0.502000													11	31					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908875	65908875	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:65908875C>T	ENST00000321892.4	+	13	5314	c.5253C>T	c.(5251-5253)gtC>gtT	p.V1751V	BPTF_ENST00000424123.3_Silent_p.V1612V|BPTF_ENST00000335221.5_Silent_p.V1751V|BPTF_ENST00000306378.6_Silent_p.V1625V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1751	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATCCACTGTCACAACCACCA	0.478000													11	47					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227625	74227625	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:74227625C>A	ENST00000316292.9	-	7	2288	c.1297G>T	c.(1297-1299)Gtt>Ttt	p.V433F	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V433F|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V433F	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	433						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCCACCGCAACTGTCTGTCTC	0.408000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	42					5.35267e-07	5.47144e-07	1	1	0
RP11-252A24.2	0	broad.mit.edu	37	16	74387751	74387751	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:74387751C>T	ENST00000429810.2	-	0	492																											GCTCAATGGTCAAGTGCCTGG	0.478000													6	71					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131191392	131191392	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:131191392G>A	ENST00000541194.1	-	6	1458	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	PODXL_ENST00000378555.3_Silent_p.L399L|PODXL_ENST00000322985.9_Silent_p.L367L|PODXL_ENST00000537928.1_Silent_p.L367L	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	399					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACAGATGCCAGCCGTATGCCG	0.572000											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	119					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21437843	21437843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:21437843G>A	ENST00000313654.9	+	33	4413	c.4172G>A	c.(4171-4173)cGa>cAa	p.R1391Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1391Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1391	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGTGACCGATGTGCTTCC	0.498000													96	50					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677000													4	21					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818939	115818939	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:115818939C>T	ENST00000374227.3	-	1	57	c.30G>A	c.(28-30)ctG>ctA	p.L10L	ZFP37_ENST00000555206.1_Silent_p.L10L|ZFP37_ENST00000553380.1_Silent_p.L10L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	10						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGGCTTTGTCAGAATCTGGA	0.682000													39	9					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660232	50660232	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:50660232C>T	ENST00000439308.2	-	16	3048	c.2556G>A	c.(2554-2556)tcG>tcA	p.S852S	TUBGCP6_ENST00000248846.5_Silent_p.S852S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	852					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCAGGCAGGCGAGTGTTGCT	0.652000													6	13					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184612496	184612496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:184612496G>A	ENST00000334690.6	+	19	2123	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E641K|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E247K	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	641																	TGTAATAGAAGAAGCATCCAA	0.383000													28	24					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511779	136511779	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:136511779C>G	ENST00000272638.9	+	4	576	c.265C>G	c.(265-267)Ccc>Gcc	p.P89A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	89					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CAGTGGAATTCCCTTGGAAGT	0.388000													10	84					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735591	18735591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:18735591G>A	ENST00000513874.1	-	14	2042	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	635	Ig-like 4.							p.P635T(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGGGCAGTGGTTTTCCCCGG	0.602000													19	40					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107371	146107371	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:146107371G>A	ENST00000292579.7	-	6	1328	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	ZNF250_ENST00000417550.2_Silent_p.F399F|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGCGGTGGCTGAAGGTCTTCC	0.572000													11	35					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153881	74153881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:74153881G>A	ENST00000443185.2	-	3	1447	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTGGTGTCCGAGGGCCCCTC	0.701000													5	19					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72292491	72292491	+	Missense_Mutation	SNP	A	A	G	rs141669123		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:72292491A>G	ENST00000263563.6	+	6	1016	c.748A>G	c.(748-750)Acg>Gcg	p.T250A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CTTGCATGTGACGGAGGAGGT	0.627000													24	73					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549913	34549913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:34549913C>T	ENST00000354181.3	-	6	1112	c.620G>A	c.(619-621)cGc>cAc	p.R207H	SLC12A6_ENST00000558667.1_Missense_Mutation_p.R207H|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R148H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R207H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R198H|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R156H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R192H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R148H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	207					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCATGTAAGGCGTAAAAAAAG	0.448000													8	21					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78163129	78163129	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:78163129G>A	ENST00000370793.1	-	25	3048	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	USP33_ENST00000370794.3_Missense_Mutation_p.T870I|USP33_ENST00000357428.1_Missense_Mutation_p.T901I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	901	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAAATTCCATGTTTCTTCAGA	0.363000													10	110					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73067326	73067326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:73067326G>C	ENST00000263674.3	+	6	4120	c.3770G>C	c.(3769-3771)aGt>aCt	p.S1257T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1257					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTGTGCGGAGTGCCGAGGAG	0.647000													9	15					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468757	15468757	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:15468757C>T	ENST00000380733.4	-	14	1634	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E431K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	431					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GAATCTCCTTCACCAACCAAG	0.388000													45	10					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604149	140604149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:140604149G>C	ENST00000239449.4	+	1	1072	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E205Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		358	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTCCAGAGAATGCCTC	0.423000													5	70					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281744	129281744	+	Silent	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:129281744G>T	ENST00000287295.3	-	4	687	c.457C>A	c.(457-459)Cgg>Agg	p.R153R	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.R149R|AIFM1_ENST00000535724.1_Silent_p.R66R	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	153	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCAGGATCCCGAGCCCGGATG	0.517000													62	7					1.12357e-39	1.19998e-39	1	1	0
NAV3	89795	broad.mit.edu	37	12	78400290	78400290	+	Silent	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:78400290T>G	ENST00000397909.2	+	8	1145	c.972T>G	c.(970-972)ccT>ccG	p.P324P	NAV3_ENST00000228327.6_Silent_p.P324P|NAV3_ENST00000266692.7_Silent_p.P324P|NAV3_ENST00000536525.2_Silent_p.P324P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	324						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCCATCCCTTCTCCAAGTG	0.537000										HNSCC(70;0.22)			5	39					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8275637	8275637	+	Splice_Site	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:8275637T>G	ENST00000402384.3	-	2	188		c.e2-2		ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000407906.1_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000396675.3_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TATTATAACCTGAAATAAAAC	0.323000													18	18					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237265	53237265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:53237265G>C	ENST00000294353.6	+	3	915	c.770G>C	c.(769-771)cGc>cCc	p.R257P	ZYG11B_ENST00000545132.1_Missense_Mutation_p.R257P|ZYG11B_ENST00000443756.2_Missense_Mutation_p.R257P	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	257							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATAGCTCTTCGCTTACTAGAA	0.393000													14	50					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103395119	103395119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:103395119C>T	ENST00000299155.5	+	5	353	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	107					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCCGCGACTCTGACCGCTTC	0.706000													4	15					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102312425	102312425	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:102312425C>T	ENST00000338858.5	-	1	104	c.105G>A	c.(103-105)acG>acA	p.T35T	OLFM3_ENST00000359814.3_Silent_p.T35T|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	35						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCGACAGCCTCGTGGTGTTCA	0.493000													10	55					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204413530	204413530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:204413530G>A	ENST00000367187.3	-	18	3257	c.2701C>T	c.(2701-2703)Cgt>Tgt	p.R901C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R873C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	901					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACAGCCATACGACGCACCTCC	0.587000													10	12					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448000													4	34					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626177	19626177	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:19626177C>G	ENST00000360913.3	-	1	661	c.60G>C	c.(58-60)gaG>gaC	p.E20D	TSSK6_ENST00000585580.3_Missense_Mutation_p.E20D			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	20	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGTAGCTGCCCTCTCCAATTG	0.632000													31	79					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637102	18637102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:18637102G>C	ENST00000336349.5	-	3	954	c.719C>G	c.(718-720)aCa>aGa	p.T240R		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	240										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTAAGTTTTGTGCCCACACT	0.448000													47	119					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042571	21042571	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:21042571G>A	ENST00000261383.3	-	37	5234	c.5235C>T	c.(5233-5235)atC>atT	p.I1745I	DNAH3_ENST00000415178.1_Silent_p.I1745I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1745	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGTTGATGATCTTGTACT	0.512000													9	36					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467833	51467833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:51467833G>A	ENST00000228515.1	-	3	481	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	62					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TTCTTCCTCCGCAGCTGCTTC	0.488000													13	48					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50169371	50169371	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:50169371C>A	ENST00000216267.8	-	11	3347	c.2861G>T	c.(2860-2862)cGt>cTt	p.R954L	BRD1_ENST00000404760.1_Missense_Mutation_p.R1085L|BRD1_ENST00000542442.1_Missense_Mutation_p.R642L|BRD1_ENST00000342989.5_Missense_Mutation_p.R680L|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R954L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	954	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCAGGCACACGGGGCATCTT	0.612000													41	34					1.23103e-26	1.30868e-26	1	1	0
CREB3L4	148327	broad.mit.edu	37	1	153946367	153946367	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:153946367G>A	ENST00000368607.3	+	10	1280	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	CREB3L4_ENST00000368600.3_Silent_p.L318L|CREB3L4_ENST00000405694.3_Silent_p.L191L|CREB3L4_ENST00000368603.1_Silent_p.L338L|CREB3L4_ENST00000271889.4_Silent_p.L338L|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	338		Cleavage; by PS1 (By similarity).			response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAAATATCCTGACCCACAAGG	0.547000													4	21					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60170419	60170419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:60170419C>G	ENST00000300187.6	+	4	630	c.353C>G	c.(352-354)tCc>tGc	p.S118C	MS4A14_ENST00000395001.1_Missense_Mutation_p.S6C|MS4A14_ENST00000531783.1_Missense_Mutation_p.S118C|MS4A14_ENST00000531787.1_Missense_Mutation_p.S6C|MS4A14_ENST00000395005.2_Missense_Mutation_p.S101C	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	118						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATCAGCTCCTTGGTTGCG	0.368000													30	79					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161511	40161511	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:40161511G>C	ENST00000325157.6	-	6	1186	c.936C>G	c.(934-936)ctC>ctG	p.L312L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	312										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGTTTCCAAGAGGTTTTCTG	0.413000													23	82					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135906452	135906452	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:135906452G>C	ENST00000372097.5	+	1	377	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372099.6_Silent_p.L18L|GTF3C5_ENST00000372108.5_Silent_p.L18L|GTF3C5_ENST00000342018.8_Silent_p.L18L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	18						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCGTGGAGCTGAGGCGGGAGC	0.706000													3	7					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34208866	34208866	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:34208866C>T	ENST00000374273.3	+	12	1348	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	412	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACCCCCGTTTCACGTGCTTGT	0.567000													22	64					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52187055	52187055	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:52187055C>G	ENST00000395718.2	+	11	1568	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	FRMD6_ENST00000344768.5_Nonsense_Mutation_p.S436*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.S359*|FRMD6_ENST00000356218.4_Nonsense_Mutation_p.S428*|FRMD6_ENST00000553556.1_Nonsense_Mutation_p.S78*	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	436						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TCCCACACCTCAGGGGTGGAG	0.582000													7	21					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241216	81241216	+	RNA	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:81241216T>G	ENST00000337114.4	-	0	784				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATGAAACTCTCACTGGACAC	0.443000													37	55					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404910	45404910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:45404910C>T	ENST00000389039.6	-	4	552	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R56Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	56	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGCTGCAACCGGCAGCCTGC	0.662000													15	30					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30309730	30309730	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:30309730C>T	ENST00000307677.4	-	2	702	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	BCL2L1_ENST00000376062.2_Missense_Mutation_p.E98K|BCL2L1_ENST00000376055.4_Missense_Mutation_p.E98K|BCL2L1_ENST00000420653.1_Missense_Mutation_p.E98K	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	98					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TACCGCAGTTCAAACTCGTCG	0.572000													15	84					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559057	140559057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:140559057C>T	ENST00000239444.2	+	1	1687	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAGAGACTCGGGCACCAAC	0.662000													110	112					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53619390	53619390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:53619390C>T	ENST00000342160.3	-	32	4397	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	HUWE1_ENST00000218328.8_Missense_Mutation_p.E1314K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1314K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1314					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTTGAGGTTCCCGGCGGGAG	0.552000													25	36					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321292	46321292	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:46321292G>C	ENST00000465950.1	-	1	2456	c.1247C>G	c.(1246-1248)tCt>tGt	p.S416C	SCAF11_ENST00000369367.3_Missense_Mutation_p.S731C|SCAF11_ENST00000549162.1_Missense_Mutation_p.S539C|SCAF11_ENST00000419565.2_Missense_Mutation_p.S731C			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	731					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTCAACTTCAGATTCATTTTG	0.353000													28	88					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135020454	135020454	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:135020454G>C	ENST00000304613.3	+	19	3597	c.3576G>C	c.(3574-3576)ctG>ctC	p.L1192L	KNDC1_ENST00000368572.2_Silent_p.L1194L|KNDC1_ENST00000368571.2_Silent_p.L1127L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAAGTATCTGCAGGCAAGTG	0.547000													9	26					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102836357	102836357	+	Missense_Mutation	SNP	C	C	T	rs150558280	byFrequency	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:102836357C>T	ENST00000264257.2	+	8	997	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	IL1RL2_ENST00000539491.1_Missense_Mutation_p.R291W|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R173W|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	291	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTCTCTTTTCGGGAACATAA	0.363000													11	45					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904438	55904438	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:55904438C>A	ENST00000301529.1	-	1	756	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTGTCCCATAGAAAACC	0.413000													15	64					2.32078e-09	2.40069e-09	1	1	0
C14orf39	317761	broad.mit.edu	37	14	60925418	60925418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:60925418C>T	ENST00000321731.3	-	14	1316	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	386										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTTTGATTCTCTTACTTGTCT	0.249000													60	42					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760884	15760884	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:15760884A>C	ENST00000378076.3	-	2	577	c.224T>G	c.(223-225)gTg>gGg	p.V75G		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	75					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGCGCCCCCACCAAGACACT	0.607000													7	63					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831536	2831536	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:2831536C>T	ENST00000356331.5	+	8	1164	c.903C>T	c.(901-903)gcC>gcT	p.A301A	SH3BP2_ENST00000435136.2_Silent_p.A301A|SH3BP2_ENST00000503393.2_Silent_p.A358A|SH3BP2_ENST00000511747.1_Silent_p.A301A|SH3BP2_ENST00000452765.2_Silent_p.A301A|SH3BP2_ENST00000442312.2_Silent_p.A329A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	301					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GGGAGAGTGCCAGCCCCAGCC	0.667000									Cherubism				10	67					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47899081	47899081	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:47899081G>A	ENST00000503935.2	+	11	1883	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KAT7_ENST00000435742.2_Missense_Mutation_p.E253K|KAT7_ENST00000454930.2_Missense_Mutation_p.E300K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000259021.4_Missense_Mutation_p.E439K|KAT7_ENST00000424009.2_Missense_Mutation_p.E409K|KAT7_ENST00000510819.1_Missense_Mutation_p.E270K|KAT7_ENST00000509773.1_Missense_Mutation_p.E329K			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	439					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TTATGATGTGGAGCCCTTCCT	0.443000													43	29					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512496	71512496	+	Silent	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:71512496G>C	ENST00000370924.4	-	1	995	c.765C>G	c.(763-765)gcC>gcG	p.A255A	PTGER3_ENST00000306666.5_Silent_p.A255A|PTGER3_ENST00000351052.5_Silent_p.A255A|PTGER3_ENST00000460330.1_Silent_p.A255A|PTGER3_ENST00000414819.1_Silent_p.A255A|PTGER3_ENST00000370932.2_Silent_p.A255A|PTGER3_ENST00000370931.3_Silent_p.A255A|PTGER3_ENST00000354608.5_Silent_p.A255A|PTGER3_ENST00000356595.4_Silent_p.A255A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	255					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGGACACCAGGGCCTTAATGG	0.612000													13	34					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067637	175067637	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:175067637G>A	ENST00000239462.4	+	9	2138	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	675	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACAGTCCTGACAGGCCTGA	0.627000													83	31					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176750885	176750885	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:176750885G>A	ENST00000430069.1	-	14	1549	c.1290C>T	c.(1288-1290)gaC>gaT	p.D430D	TBL1XR1_ENST00000457928.2_Silent_p.D430D			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	430					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATATCCCTCGGTCTACATCCC	0.428000													16	26					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55527103	55527103	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:55527103G>A	ENST00000396307.2	-	2	281	c.30C>T	c.(28-30)atC>atT	p.I10I	RAB27A_ENST00000336787.1_Silent_p.I10I|RAB27A_ENST00000569493.1_Silent_p.I10I|RAB27A_ENST00000564609.1_Silent_p.I10I	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	10					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CTAAAAACTTGATGAGGTAAT	0.328000													12	24					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112927786	112927786	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:112927786C>G	ENST00000161863.4	+	28	4336	c.4123C>G	c.(4123-4125)Cga>Gga	p.R1375G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1375	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1375*(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGAGTGGATACGAAAAGAAAG	0.453000													10	9					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105360912	105360912	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:105360912G>A	ENST00000453495.1	+	18	4740	c.4512G>A	c.(4510-4512)caG>caA	p.Q1504Q	CEP170B_ENST00000414716.3_Silent_p.Q1468Q|CEP170B_ENST00000556508.1_Silent_p.Q1433Q|CEP170B_ENST00000418279.1_Silent_p.Q1398Q					centrosomal protein 170B																		GGCGGGTGCAGAAACAGCTGG	0.627000													12	6					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86048116	86048116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:86048116C>T	ENST00000451137.2	+	4	876	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	218					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AATGGAGCCTCGCATCCTATA	0.438000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20190950	20190950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:20190950C>A	ENST00000379565.3	-	15	1474	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	RPS6KA3_ENST00000544447.1_Nonsense_Mutation_p.E395*|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Nonsense_Mutation_p.E394*|RPS6KA3_ENST00000379548.4_Nonsense_Mutation_p.E393*	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	423	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCTTTTACTTCATATCCATCA	0.328000													12	24					6.40141e-05	6.47639e-05	1	1	0
ZBTB10	65986	broad.mit.edu	37	8	81400006	81400006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:81400006G>A	ENST00000430430.1	+	2	1740	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZBTB10_ENST00000426744.2_Missense_Mutation_p.A321T|ZBTB10_ENST00000455036.3_Missense_Mutation_p.A321T|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	321					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACTCCACGAAGCCAACGCCCA	0.532000													11	34					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950821	46950821	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:46950821G>A	ENST00000311124.4	-	4	1166	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SLC19A1_ENST00000567670.1_Silent_p.L338L|SLC19A1_ENST00000380010.4_Silent_p.L338L|SLC19A1_ENST00000485649.2_Silent_p.L298L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	338					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CGCCCGCGATGAGCAGCTTGG	0.697000													20	9					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157567718	157567718	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:157567718G>A	ENST00000271532.1	-	1	152	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	6						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGCCAGCAAGGACGCCCACAG	0.547000													4	12					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981177	201981177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:201981177G>A	ENST00000359651.3	+	2	3448	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.D86N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.D86N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	86	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GAACAAGTACGACGCAAGCGC	0.577000													37	66					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2692024	2692024	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:2692024G>A	ENST00000399655.1	+	15	2405	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	CACNA1C_ENST00000399629.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D714N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D739N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D714N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D714N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	714					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGTGATGTATGATGGGATCAT	0.483000													10	12					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35401971	35401971	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:35401971C>T	ENST00000453357.2	+	1	62	c.6C>T	c.(4-6)atC>atT	p.I2I	UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTGGATGATCCTGGTGTTAG	0.413000													10	24					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123834910	123834910	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:123834910C>G	ENST00000420886.2	-	1	78	c.79G>C	c.(79-81)Gat>Cat	p.D27H	SBNO1_ENST00000267176.4_Missense_Mutation_p.D27H|SBNO1_ENST00000602398.1_Missense_Mutation_p.D27H|SBNO1_ENST00000602750.1_Missense_Mutation_p.D27H	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	27							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCTCCACCATCAATATCAAAG	0.443000													39	143					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992839	124992839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:124992839G>A	ENST00000522917.1	+	11	1404	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E400K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	400						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATCTTGGTAGAAATTGCTGT	0.498000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	63					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													4	26					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69943186	69943186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:69943186G>A	ENST00000370598.1	+	18	3306	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	BAI3_ENST00000238918.8_Missense_Mutation_p.E35K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	829	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGCAGGAACGAGTCTTTGGG	0.468000													41	115					0	0	1	0	0
TERC	7012	broad.mit.edu	37	3	169482464	169482464	+	RNA	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:169482464C>T	ENST00000602385.1	-	0	384					NR_001566.1																						CGCGGGGACTCGCTCCGTTCC	0.672000									Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				8	13					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126041	19126041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:19126041C>G	ENST00000564808.2	+	2	202	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	ITPRIPL2_ENST00000381440.3_Silent_p.A86A																							GTCACGCCGCCTTCTCCTCGA	0.662000													13	18					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121678660	121678660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:121678660G>A	ENST00000324774.5	-	17	2437	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	CAMKK2_ENST00000404169.3_Nonsense_Mutation_p.R537*|CAMKK2_ENST00000337174.3_Silent_p.S522S|CAMKK2_ENST00000538733.1_Silent_p.S479S|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000412367.2_Silent_p.S522S|CAMKK2_ENST00000402834.4_Nonsense_Mutation_p.R537*|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000347034.2_Nonsense_Mutation_p.R494*	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	537					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTTGTCTTCGCTGCCTTGCT	0.637000													17	35					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741440	145741440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:145741440G>A	ENST00000428558.2	-	5	1104	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	355			R -> Q.		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ATGTTGAGCCGTACGTAATTG	0.637000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	42					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957593	73957593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:73957593G>A	ENST00000358602.4	-	29	5868	c.5752C>T	c.(5752-5754)Cca>Tca	p.P1918S	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1667S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1805S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1918					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGCTGGTGGAAAAGTACCT	0.537000													16	29					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96261723	96261723	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:96261723G>A	ENST00000347108.3	-	11	1840	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	DZIP1_ENST00000361396.2_Intron|DZIP1_ENST00000376829.2_Missense_Mutation_p.P470S|DZIP1_ENST00000361156.3_Intron			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	470					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGCACAGCTGGAGCAGCTGGC	0.358000													14	6					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895489	24895489	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:24895489G>A	ENST00000382071.2	+	4	670	c.585G>A	c.(583-585)gaG>gaA	p.E195E	AL359736.1_ENST00000422229.2_Silent_p.V26V|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.E195E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	195						collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAATCGGTGAGACTCTAGTCT	0.507000													15	37					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130947437	130947437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:130947437G>A	ENST00000383366.4	+	15	1758	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	NEK11_ENST00000412440.2_Missense_Mutation_p.E305K|NEK11_ENST00000508196.1_Missense_Mutation_p.E489K|NEK11_ENST00000510688.1_Missense_Mutation_p.E489K|NEK11_ENST00000429253.2_Missense_Mutation_p.E489K|NEK11_ENST00000510769.1_Missense_Mutation_p.E384K	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	489					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTATTGTGAAGAGAGTGATGA	0.428000													51	88					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990598	63990598	+	Silent	SNP	C	C	T	rs112045200		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:63990598C>T	ENST00000279227.5	+	14	1856	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	FERMT3_ENST00000345728.5_Silent_p.D583D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	587					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGTGGGCGACGTGGTCAAGA	0.612000													12	52					0	0	1	0	0
NOP10	55505	broad.mit.edu	37	15	34634196	34634196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:34634196C>T	ENST00000328848.4	-	2	271	c.168G>A	c.(166-168)atG>atA	p.M56I	NOP10_ENST00000557912.1_Silent_p.*37*	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	56					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						GTTGCTGGGTCATGAGCACCT	0.542000													8	13					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:1271606C>G	ENST00000447027.1	+	31	13563	c.13505C>G	c.(13504-13506)tCc>tGc	p.S4502C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642000													5	135					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99160234	99160234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:99160234G>A	ENST00000370992.4	-	2	308	c.197C>T	c.(196-198)tCc>tTc	p.S66F	RRP12_ENST00000414986.1_Missense_Mutation_p.S66F|RRP12_ENST00000315563.6_Missense_Mutation_p.S66F	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	66						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAAGCGCAAGGACCCTGACTG	0.562000													21	92					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40505659	40505659	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:40505659C>T	ENST00000287598.6	+	20	2857	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L	BUB1B_ENST00000412359.3_Silent_p.L902L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	888	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCCAAGGTGTCTGATTCTCAG	0.368000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	55					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58111707	58111707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:58111707G>A	ENST00000315970.7	+	10	1141	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OS9_ENST00000389146.6_Missense_Mutation_p.R367Q|OS9_ENST00000389142.5_Missense_Mutation_p.R367Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Missense_Mutation_p.R161Q|OS9_ENST00000552285.1_Missense_Mutation_p.R367Q|OS9_ENST00000551035.1_Missense_Mutation_p.R335Q|OS9_ENST00000257966.8_Missense_Mutation_p.R368Q|OS9_ENST00000439210.2_Missense_Mutation_p.R308Q|OS9_ENST00000435406.2_Missense_Mutation_p.R315Q	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	367					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATTTGATTCGATTCATAGAG	0.428000													28	76					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912230	23912230	+	Missense_Mutation	SNP	G	G	A	rs141019064		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr13:23912230G>A	ENST00000382298.3	-	10	6373	c.5785C>T	c.(5785-5787)Cgg>Tgg	p.R1929W	SACS_ENST00000382292.3_Missense_Mutation_p.R1929W|SACS_ENST00000402364.1_Missense_Mutation_p.R1179W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1929					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCAGGTCCCGTAAGACACTC	0.408000													10	28					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197298072	197298072	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:197298072C>T	ENST00000367400.3	+	2	726	c.591C>T	c.(589-591)aaC>aaT	p.N197N	CRB1_ENST00000367399.2_Silent_p.N197N|CRB1_ENST00000535699.1_Silent_p.N128N|CRB1_ENST00000538660.1_Silent_p.N197N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	197	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTGCAAGAACGAGGCTACAT	0.433000													9	78					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283239	33283239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:33283239G>C	ENST00000431845.2	-	2	1606	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	ZBTB22_ENST00000418724.1_Missense_Mutation_p.I485M	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGCACAGAAAGATCTTATTCC	0.642000													14	103					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112463405	112463405	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:112463405C>G	ENST00000230538.7	-	20	2980	c.2583G>C	c.(2581-2583)ctG>ctC	p.L861L	LAMA4_ENST00000522006.1_Silent_p.L854L|LAMA4_ENST00000424408.2_Silent_p.L854L|LAMA4_ENST00000389463.4_Silent_p.L854L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	861	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTACAGGCTCAGAGACGTGA	0.498000													30	68					0	0	1	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:42322147G>A	ENST00000291232.3	-	2	369	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731000													20	13					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140051206	140051206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:140051206G>A	ENST00000371561.3	+	5	1854	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GRIN1_ENST00000315048.3_Missense_Mutation_p.E253K|GRIN1_ENST00000371560.3_Missense_Mutation_p.E274K|GRIN1_ENST00000371553.3_Missense_Mutation_p.E274K|GRIN1_ENST00000371559.4_Missense_Mutation_p.E253K|GRIN1_ENST00000350902.5_Missense_Mutation_p.E253K|GRIN1_ENST00000371555.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371546.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371550.4_Missense_Mutation_p.E253K|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	253					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGGCGAGCGCGAGATCTCGGG	0.697000													5	0					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32436261	32436261	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:32436261G>C	ENST00000309951.6	+	18	2251	c.2113G>C	c.(2113-2115)Gaa>Caa	p.E705Q	ACO1_ENST00000379923.1_Missense_Mutation_p.E705Q|ACO1_ENST00000541043.1_Missense_Mutation_p.E606Q	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTCCACGAGAATTCAACTC	0.448000													22	37					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220160661	220160661	+	Missense_Mutation	SNP	G	G	A	rs144026458		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:220160661G>A	ENST00000366923.3	-	20	3130	c.2861C>T	c.(2860-2862)tCg>tTg	p.S954L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	954	3 X 57 AA approximate repeats.|WHEP-TRS 3.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCCAGTGGCCGACACAGGCTT	0.373000													11	41					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25207993	25207993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:25207993C>T	ENST00000409280.1	-	3	534	c.226G>A	c.(226-228)Gag>Aag	p.E76K	C7orf31_ENST00000283905.3_Missense_Mutation_p.E76K			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	76										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTGTGGTCCTCGGGGAGTGAA	0.468000													20	101					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49575335	49575335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:49575335C>T	ENST00000221444.1	-	1	863	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	170						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TCGCGGTCGTCGCGGAAGTCA	0.711000													6	22					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246811167	246811167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:246811167G>A	ENST00000366513.4	+	9	1933	c.1664G>A	c.(1663-1665)tGt>tAt	p.C555Y	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.C555Y	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	555					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTAGAAGGATGTTTAAAAGAT	0.428000													49	58					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465225	77465225	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:77465225G>A	ENST00000282849.5	-	3	880	c.462C>T	c.(460-462)tcC>tcT	p.S154S	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	154					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGACAGAGGAGGAGCTGTCAT	0.463000													7	52					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249906	39249906	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:39249906C>G	ENST00000426016.1	-	11	1749	c.1663G>C	c.(1663-1665)Gat>Cat	p.D555H	SOS1_ENST00000395038.2_Missense_Mutation_p.D555H|SOS1_ENST00000402219.2_Missense_Mutation_p.D555H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	555					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTGTTACATCAAGCATCCTT	0.393000									Noonan syndrome				32	70					0	0	1	0	0
PDRG1	81572	broad.mit.edu	37	20	30538146	30538146	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:30538146C>T	ENST00000202017.4	-	2	262	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	44					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGGCCCTCAGGCCCTCTC	0.512000													25	85					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148939523	148939523	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:148939523C>T	ENST00000264613.6	-	1	319	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	19					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.A19A(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCTTTTCTTTCGCCCAGGCTG	0.363000													23	40					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406138	3406138	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:3406138C>G	ENST00000304936.2	+	1	250	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCAGCAACCTCTCCTCCTTGG	0.522000													25	60					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60499397	60499397	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:60499397C>G	ENST00000360469.5	+	11	1722	c.1634C>G	c.(1633-1635)tCa>tGa	p.S545*	CDH4_ENST00000543233.1_Nonsense_Mutation_p.S471*	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	545	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGCAGATACTCAAAGCTGTCA	0.642000													3	26					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3769223	3769223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:3769223G>A	ENST00000381771.2	-	16	1685	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F	CAMKK1_ENST00000158166.5_Missense_Mutation_p.S513F|CAMKK1_ENST00000381769.2_Missense_Mutation_p.S502F|CAMKK1_ENST00000348335.2_Missense_Mutation_p.S475F			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	475					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCCTGGAGCAGACATGGATCG	0.602000													20	35					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124554	46124554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:46124554C>T	ENST00000536630.1	-	14	1612	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	EML2_ENST00000587152.1_Missense_Mutation_p.E546K|EML2_ENST00000589876.1_Missense_Mutation_p.E345K|EML2_ENST00000245925.3_Missense_Mutation_p.E345K	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	345					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCGTGGCCCTCTGCCACGGTG	0.617000													20	39					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24244526	24244526	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:24244526C>G	ENST00000338315.4	+	7	690	c.690C>G	c.(688-690)ctC>ctG	p.L230L	MFSD2B_ENST00000406420.3_Silent_p.L230L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	230					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGGCCCATCTCTACTGCATTG	0.607000													5	21					0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086429	46086429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr21:46086429G>T	ENST00000360770.3	-	1	415	c.375C>A	c.(373-375)tgC>tgA	p.C125*	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	125	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGGCTGGCAGCACCCAGAGG	0.632000													13	36					9.05144e-12	9.40533e-12	1	1	0
MYPOP	339344	broad.mit.edu	37	19	46404965	46404965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:46404965C>T	ENST00000322217.5	-	2	153	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	23	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TGGTTCTCTTCGAATGAGAAG	0.726000													7	4					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804406	14804406	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:14804406C>G	ENST00000261170.3	-	15	1781	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCACTGTGCCGTAGAACTTG	0.403000													9	65					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28965660	28965660	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:28965660T>C	ENST00000524189.1	-	35	4249	c.4211A>G	c.(4210-4212)aAc>aGc	p.N1404S		NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1404					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCTACCTTGTTGCTGCCTAG	0.393000													4	6					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90109651	90109651	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:90109651C>T	ENST00000268699.4	+	11	1457	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Silent_p.F420F	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	445					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TGCTGGCCTTCGGGATCCCTC	0.647000													29	19					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193038398	193038398	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:193038398G>C	ENST00000367446.3	+	2	424	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	TROVE2_ENST00000367443.1_Missense_Mutation_p.E72Q|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Missense_Mutation_p.E72Q|TROVE2_ENST00000367441.1_Missense_Mutation_p.E72Q|TROVE2_ENST00000400968.2_Missense_Mutation_p.E72Q|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.E72Q|TROVE2_ENST00000416058.2_5'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	72	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CAGAGGATGTGAAGTGATACA	0.403000													9	69					0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50368147	50368147	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:50368147G>A	ENST00000359365.4	-	6	994	c.888C>T	c.(886-888)ttC>ttT	p.F296F	RASSF1_ENST00000357043.2_Silent_p.F300F|RASSF1_ENST00000327761.3_Silent_p.F226F|RASSF1_ENST00000395126.3_Silent_p.F145F	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	300	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCATGCTGAAGGCGTCCC	0.572000													8	13					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849796	1849796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:1849796C>G	ENST00000378602.3	-	1	440	c.200G>C	c.(199-201)cGg>cCg	p.R67P	TMEM52_ENST00000310991.3_Missense_Mutation_p.R82P			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	82						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCTGCTTCCGGAGGCAGCA	0.622000													7	63					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23724475	23724475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:23724475G>T	ENST00000256797.4	-	1	346	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	ERN2_ENST00000457008.2_Missense_Mutation_p.P12T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	12					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAGCCGGGGCCACGGCCTC	0.716000													3	2					0.150653	0.150653	1	1	0
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:123845774G>A	ENST00000369005.1	+	4	4099	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V	TACC2_ENST00000453444.2_Silent_p.V1253V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.V1253V|TACC2_ENST00000334433.3_Silent_p.V1253V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1253V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1253						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGTGGAGTGAAAGCTGTTT	0.592000													35	45					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155829561	155829561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:155829561G>C	ENST00000368324.4	+	1	262	c.9G>C	c.(7-9)gaG>gaC	p.E3D	SYT11_ENST00000539162.1_5'UTR	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	3						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ACATGGCTGAGATCACCAATA	0.532000													35	114					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923271	226923271	+	Missense_Mutation	SNP	T	T	C	rs146855114		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:226923271T>C	ENST00000429204.1	-	2	2216	c.1889A>G	c.(1888-1890)aAc>aGc	p.N630S	ITPKB_ENST00000272117.3_Missense_Mutation_p.N630S|ITPKB_ENST00000366784.1_Missense_Mutation_p.N630S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	630							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GAAGGCTGAGTTGGGGTCCAG	0.537000													43	66					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102494875	102494875	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:102494875T>A	ENST00000552283.1	-	4	428	c.289A>T	c.(289-291)Act>Tct	p.T97S	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.T97S			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	97					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GCAGCTGAAGTACAAAATCTG	0.343000													5	12					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835057	22835057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:22835057C>T	ENST00000404138.1	+	9	2043	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S399L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S511L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	511					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GACTCTGGTTCAGGTGGTTTC	0.493000													28	85					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66131809	66131809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:66131809C>G	ENST00000357440.2	-	11	1374	c.1146G>C	c.(1144-1146)caG>caC	p.Q382H	SLC29A2_ENST00000546034.1_Missense_Mutation_p.Q382H|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_Missense_Mutation_p.E338Q|SLC29A2_ENST00000544554.1_Missense_Mutation_p.Q382H	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	382					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCGGGACCTCTGGGGCACGT	0.602000											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	40					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133358956	133358956	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:133358956G>A	ENST00000260810.5	-	13	2211	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	694	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGTATAAGATGAGTACTGGCA	0.383000								Other conserved DNA damage response genes					11	24					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880323	22880323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:22880323C>T	ENST00000276431.4	-	9	1468	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R215Q|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R366Q	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	395	Death.				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		AGAGGCATCTCGCCCGGTTTT	0.542000													19	22					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220344286	220344286	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:220344286C>G	ENST00000358951.2	-	24	2870	c.2754G>C	c.(2752-2754)caG>caC	p.Q918H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	918					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGCTCAGCCTGCAGTGATG	0.418000													12	55					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	569852	569852	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:569852G>A	ENST00000262305.4	+	11	2209	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	RAB11FIP3_ENST00000450428.1_Silent_p.E311E|RAB11FIP3_ENST00000457159.1_Silent_p.E652E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	607					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TGAGTCACGAGAGGCACCAGT	0.627000													5	3					0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109294465	109294465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:109294465C>T	ENST00000393310.1	+	8	936	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	LIMS1_ENST00000332345.6_Missense_Mutation_p.R257C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R319C|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000409441.1_Missense_Mutation_p.R294C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R257C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R269C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R261C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	257	LIM zinc-binding 5.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CCACTGCAATCGTGTTATAGA	0.348000													53	26					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114512627	114512627	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:114512627G>T	ENST00000369558.1	+	14	3053	c.2821G>T	c.(2821-2823)Gat>Tat	p.D941Y	HIPK1_ENST00000369553.1_Missense_Mutation_p.D547Y|HIPK1_ENST00000369559.4_Missense_Mutation_p.D941Y|HIPK1_ENST00000340480.4_Missense_Mutation_p.D567Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.D896Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.D547Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.D896Y|HIPK1_ENST00000369561.4_Missense_Mutation_p.D907Y|HIPK1_ENST00000426820.2_Missense_Mutation_p.D941Y			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	941	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTGTCAATGATTCTCCAGA	0.443000													21	228					3.85864e-22	4.09573e-22	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46966997	46966997	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:46966997G>T	ENST00000264318.3	-	8	2106	c.1124C>A	c.(1123-1125)gCc>gAc	p.A375D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	375					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGCAGAGGGGCTTCAGGATG	0.408000													17	41					2.94398e-08	3.02272e-08	1	1	0
AHR	196	broad.mit.edu	37	7	17367467	17367467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:17367467C>T	ENST00000242057.4	+	4	1088	c.445C>T	c.(445-447)Cag>Tag	p.Q149*		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	149	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCTAGGGTTTCAGCAGGTAAG	0.294000													9	42					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12062150	12062150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:12062150C>G	ENST00000235329.5	+	11	1472	c.1150C>G	c.(1150-1152)Cgg>Ggg	p.R384G	MFN2_ENST00000444836.1_Missense_Mutation_p.R384G	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	384					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CATGGCGGCTCGGGAGCAGCA	0.592000													22	77					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190585486	190585486	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:190585486C>T	ENST00000520309.1	+	12	2696	c.2608C>T	c.(2608-2610)Ctt>Ttt	p.L870F	ANKAR_ENST00000313581.4_Missense_Mutation_p.L870F|ANKAR_ENST00000438402.2_Missense_Mutation_p.L870F|ANKAR_ENST00000431575.2_Missense_Mutation_p.L799F|ANKAR_ENST00000281412.6_Missense_Mutation_p.L634F	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	870						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CCTCCCATATCTTATCAGATT	0.343000													16	155					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185674	38185674	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:38185674G>A	ENST00000373048.4	-	14	2468	c.2469C>T	c.(2467-2469)ttC>ttT	p.F823F	EPHA10_ENST00000427468.2_Silent_p.F823F|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.F318F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	823	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCAGAGCTGAAGTGGCCAA	0.612000													8	66					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68126152	68126152	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:68126152T>G	ENST00000380035.2	+	9	2934	c.2876T>G	c.(2875-2877)tTc>tGc	p.F959C	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.F920C|SKOR1_ENST00000341418.5_Missense_Mutation_p.F862C|SKOR1_ENST00000554054.1_Missense_Mutation_p.F931C|SKOR1_ENST00000389002.1_Missense_Mutation_p.F915C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	959					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AACTGCTCCTTCAAGCCACCG	0.657000											OREG0023216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	35					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70314996	70314996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:70314996G>A	ENST00000303577.5	+	1	412	c.121G>A	c.(121-123)Gag>Aag	p.E41K	PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	41	KH 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGATCCGCGAGGAGAGTGG	0.517000													33	87					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35921661	35921661	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:35921661C>G	ENST00000325722.3	-	10	1843	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	537	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGACCACTCATAGCTGGTG	0.532000													30	173					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57089342	57089342	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:57089342G>A	ENST00000532437.1	-	1	329	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TNKS1BP1_ENST00000358252.3_Silent_p.L6L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	6	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L6L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCTTTCCCTGAGAGTAGACA	0.597000													18	11					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192194747	192194747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:192194747G>A	ENST00000392318.3	+	4	585	c.338G>A	c.(337-339)gGa>gAa	p.G113E	MYO1B_ENST00000339514.4_Missense_Mutation_p.G113E|MYO1B_ENST00000304164.4_Missense_Mutation_p.G113E|MYO1B_ENST00000392316.1_Missense_Mutation_p.G113E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	113	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGTGGAGCAGGAAAAACAGGT	0.468000													15	123					0	0	1	0	0
ISY1	57461	broad.mit.edu	37	3	128849477	128849477	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:128849477C>G	ENST00000393292.3	-	10	731	c.670G>C	c.(670-672)Gga>Cga	p.G224R	ISY1_ENST00000393295.3_Silent_p.S222S|ISY1-RAB43_ENST00000418265.1_Silent_p.S222S|ISY1_ENST00000273541.8_Silent_p.S244S|ISY1_ENST00000471497.1_5'UTR					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTTCCTCGTCCGACTACAAAC	0.488000													10	25					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79258872	79258872	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:79258872G>A	ENST00000264895.6	+	20	2763	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	FRAS1_ENST00000325942.6_Missense_Mutation_p.D775N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	775					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTGGAGTCTGACTGCATCTC	0.542000													25	79					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197115395	197115395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:197115395C>T	ENST00000367409.4	-	1	429	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASPM_ENST00000294732.7_Missense_Mutation_p.G58E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	58					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCGTGAGGCTCCCAGGAGAAC	0.652000													142	48					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39536602	39536602	+	Splice_Site	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:39536602A>G	ENST00000263881.3	-	14	1380	c.1056T>C	c.(1054-1056)ctT>ctC	p.L352L	MAP4K3_ENST00000437545.1_Splice_Site_p.L289L|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000341681.5_Splice_Site_p.L352L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	352					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TACTACTTACAAGTTCATGAT	0.289000													21	37					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53164803	53164803	+	Silent	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:53164803C>A	ENST00000332411.2	-	7	1517	c.1464G>T	c.(1462-1464)ctG>ctT	p.L488L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	488	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCCTCCAGCAGCTTGCGGT	0.542000													7	69					8.12818e-05	8.21137e-05	1	1	0
HERC6	55008	broad.mit.edu	37	4	89352367	89352367	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:89352367C>G	ENST00000380265.5	+	16	2235	c.2052C>G	c.(2050-2052)ttC>ttG	p.F684L	HERC6_ENST00000264346.7_Missense_Mutation_p.F720L	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTTCAGAGTTCTTCCACTGTA	0.393000													29	77					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912904	94912904	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:94912904C>T	ENST00000334708.3	-	3	745	c.681G>A	c.(679-681)caG>caA	p.Q227Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	227					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTTCCTGCTTCTGGGTCTGGT	0.478000													30	68					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21508658	21508658	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr18:21508658G>A	ENST00000313654.9	+	64	8606	c.8365G>A	c.(8365-8367)Gac>Aac	p.D2789N	LAMA3_ENST00000269217.6_Missense_Mutation_p.D1180N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.D2733N|LAMA3_ENST00000587184.1_Missense_Mutation_p.D1124N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2789	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACCTACTGACCACCTCCA	0.428000													27	141					0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31129691	31129691	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:31129691G>A	ENST00000376257.3	+	3	1460	c.706G>A	c.(706-708)Gat>Aat	p.D236N	TCF19_ENST00000376255.4_Missense_Mutation_p.D236N|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	236	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGAACTGGATGATGAGAGTGA	0.587000													12	40					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81428993	81428993	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:81428993T>C	ENST00000286732.4	+	3	379	c.296T>C	c.(295-297)aTt>aCt	p.I99T		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	99										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCAGATGAAATTCAGTCCCAT	0.468000													13	35					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94048275	94048275	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:94048275G>A	ENST00000370244.1	-	9	1557	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	BCAR3_ENST00000370243.1_Silent_p.L423L|BCAR3_ENST00000370247.3_Silent_p.L332L|BCAR3_ENST00000260502.6_Silent_p.L423L|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Silent_p.L99L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	423					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTCTGAGTTGAGCCAGGCAG	0.607000													26	17					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20550709	20550709	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:20550709T>A	ENST00000504154.1	+	24	2699	c.2447T>A	c.(2446-2448)aTt>aAt	p.I816N	SLIT2_ENST00000503837.1_Missense_Mutation_p.I812N|SLIT2_ENST00000273739.5_Missense_Mutation_p.I820N|SLIT2_ENST00000503823.1_Missense_Mutation_p.I808N|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	816					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGAGATGTATTCCTCCTCGC	0.353000													32	41					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132081933	132081933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:132081933G>T	ENST00000374786.1	+	3	897	c.418G>T	c.(418-420)Gag>Tag	p.E140*	NTM_ENST00000374791.3_Nonsense_Mutation_p.E140*|NTM_ENST00000539799.1_Nonsense_Mutation_p.E140*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Nonsense_Mutation_p.E140*|NTM_ENST00000427481.2_Nonsense_Mutation_p.E131*|NTM_ENST00000425719.2_Nonsense_Mutation_p.E140*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	140	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAAAATTGTAGAGATTTCTTC	0.393000													5	17					2.0095e-06	2.03602e-06	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153916545	153916545	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:153916545G>A	ENST00000361217.4	-	2	724	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	102	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTCAACGAGGGGGGGCT	0.632000													7	14					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320800	232320800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:232320800C>T	ENST00000322723.4	-	12	1993	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	585	RRM 4.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AATGTCTCTTCAGTGGTATCC	0.468000													21	22					0	0	1	0	0
LYL1	4066	broad.mit.edu	37	19	13211879	13211879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:13211879G>A	ENST00000264824.4	-	2	467	c.107C>T	c.(106-108)tCg>tTg	p.S36L		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	36					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GGGCCCAGGCGAGGCAGGCTT	0.711000			T	TRB@	T-ALL								3	2					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33636793	33636793	+	Silent	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:33636793G>T	ENST00000374316.5	+	19	3109	c.2049G>T	c.(2047-2049)ctG>ctT	p.L683L	ITPR3_ENST00000605930.1_Silent_p.L683L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	683					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGAGTACCTGAGCATCGAGT	0.602000													11	36					1.58986e-06	1.61558e-06	1	1	0
ZNF259	8882	broad.mit.edu	37	11	116650538	116650538	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:116650538T>A	ENST00000227322.3	-	13	1254	c.1195A>T	c.(1195-1197)Atg>Ttg	p.M399L		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	399					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGGGCCTTCATGTTACCTTCG	0.433000													20	46					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123503368	123503368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:123503368C>T	ENST00000369043.3	-	12	1470	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	ATE1_ENST00000369040.3_Missense_Mutation_p.E366K|ATE1_ENST00000540606.1_Missense_Mutation_p.E455K|ATE1_ENST00000535655.1_Missense_Mutation_p.E163K|ATE1_ENST00000224652.6_Missense_Mutation_p.E462K|ATE1_ENST00000543447.1_Missense_Mutation_p.E347K	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	462					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTGCGATCCTCATCCACTGCA	0.368000													15	75					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52515785	52515785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:52515785C>T	ENST00000261839.7	-	29	3744	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1195						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGGATGCTTTCATTGATGTCA	0.433000													29	20					0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11456024	11456024	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:11456024G>A	ENST00000354882.5	-	2	594	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TMEM205_ENST00000447337.1_Silent_p.F56F|TMEM205_ENST00000586590.1_Silent_p.F56F|TMEM205_ENST00000589555.1_Silent_p.F56F|CCDC159_ENST00000588790.1_5'UTR|CCDC159_ENST00000587100.1_3'UTR|TMEM205_ENST00000586956.1_Silent_p.F56F|TMEM205_ENST00000588560.1_Silent_p.F56F|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Silent_p.F56F|TMEM205_ENST00000593256.2_Silent_p.F56F|TMEM205_ENST00000586218.1_5'UTR			Q6UW68	TM205_HUMAN	transmembrane protein 205	56						integral to membrane				endometrium(1)|lung(1)	2						TGTGGAAGTAGAAGGGGAAGA	0.562000													13	25					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883359	48883359	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:48883359G>A	ENST00000262105.2	+	11	1932	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	MCM4_ENST00000523944.1_Missense_Mutation_p.E575K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	575	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGTATCGATGAGTTCGACAA	0.502000													11	30					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252607	208252607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:208252607C>T	ENST00000367033.3	-	12	3341	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	862	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGACTTACCTCGGTGATTTGA	0.567000													10	25					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26640456	26640456	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:26640456G>A	ENST00000264866.4	+	6	711	c.433G>A	c.(433-435)Gat>Aat	p.D145N	TBC1D19_ENST00000511789.1_Splice_Site_p.D80N|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	145						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGATGAACCAGGTATGTGAAC	0.323000													13	29					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65727395	65727395	+	RNA	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65727395C>G	ENST00000532620.1	+	0	1886				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGCCTGGACCCGGAGTGCAGT	0.562000													24	12					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45532	45532	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:45532G>A	ENST00000327669.4	-	1	853	c.854C>T	c.(853-855)tCg>tTg	p.S285L		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	285						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTCGATGACCGAAGTGGTGCT	0.662000													20	71					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31285623	31285623	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr22:31285623G>A	ENST00000332585.6	+	7	1727	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	OSBP2_ENST00000535268.1_Splice_Site_p.P85P|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Splice_Site_p.P283P|OSBP2_ENST00000446658.2_Splice_Site_p.P540P|OSBP2_ENST00000403222.3_Splice_Site_p.P375P|OSBP2_ENST00000407373.1_Splice_Site_p.P368P|OSBP2_ENST00000401475.1_Splice_Site_p.P174P	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	541					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCCCATGCCGGTGGGTGGCT	0.607000													24	43					0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39082670	39082670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:39082670C>T	ENST00000229903.4	-	1	295	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	66						integral to membrane											TGAACTAGGCCGGGCTGGGCC	0.662000													12	41					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73604637	73604637	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:73604637G>A	ENST00000265753.8	+	5	608		c.e5+1		EIF4H_ENST00000495187.1_Splice_Site|EIF4H_ENST00000353999.6_Intron	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TTCAATTCTGGTATCAGTATT	0.438000													10	55					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9914831	9914831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:9914831G>A	ENST00000380913.3	+	10	4795	c.4705G>A	c.(4705-4707)Gag>Aag	p.E1569K	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E404K	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1569	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTATCTGAGCGAGGAGAGCCT	0.562000													5	5					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130069911	130069911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:130069911G>A	ENST00000278742.5	+	16	2291	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	625	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGATGAGGGCGAGTGGCCCTG	0.622000													10	44					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57111918	57111918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:57111918C>A	ENST00000262510.6	+	43	5292	c.5067C>A	c.(5065-5067)caC>caA	p.H1689Q	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.H1660Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.H1660Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1689					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCCCCAGCACCTGAGGGTCC	0.662000													16	11					0.00400662	0.0040241	1	1	0
ABCF3	55324	broad.mit.edu	37	3	183908978	183908978	+	Missense_Mutation	SNP	G	G	A	rs75824087	byFrequency	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:183908978G>A	ENST00000429586.2	+	16	1689	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.D496N	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	502	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTCTACTACGATCCGAAGCA	0.552000													50	55					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85965618	85965618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:85965618G>A	ENST00000372117.3	+	10	1001	c.898G>A	c.(898-900)Gga>Aga	p.G300R	CDHR1_ENST00000440770.2_Missense_Mutation_p.G59R|CDHR1_ENST00000332904.3_Missense_Mutation_p.G300R	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	300	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGAGACATCTGGAGCCATCTC	0.572000											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	8					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40553940	40553940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:40553940G>A	ENST00000314529.6	+	4	348	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAGCAAGGGGAACTGCCATG	0.567000													3	9					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86057732	86057732	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr8:86057732C>G	ENST00000414626.2	+	18	3914	c.3025C>G	c.(3025-3027)Cag>Gag	p.Q1009E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q1029E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1029					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAATGAAATTCAGCAAGATAT	0.289000													17	64					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225860	39225860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:39225860C>T	ENST00000340369.3	-	2	5305	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.D376N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1693	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTGAGACATCAGGGTTGCCC	0.527000													33	18					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56500398	56500398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:56500398G>A	ENST00000370754.5	-	23	3075	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	DST_ENST00000370788.2_Nonsense_Mutation_p.Q848*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q848*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q522*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q848*|DST_ENST00000370765.6_Nonsense_Mutation_p.Q522*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q848*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q522*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q848*|DST_ENST00000518935.1_Nonsense_Mutation_p.Q522*			Q03001	DYST_HUMAN	dystonin	848					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTGATTCCTGAACAAGGTCT	0.343000													35	43					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656333	28656333	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:28656333G>C	ENST00000328886.4	-	3	369	c.297C>G	c.(295-297)atC>atG	p.I99M	TMIGD1_ENST00000538566.2_Missense_Mutation_p.I99M	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	99	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AGGTAAAGCTGATTCCGTTGT	0.488000													18	45					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545842	65545842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:65545842C>T	ENST00000532090.2	-	2	2332	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	651							protein binding			lung(1)	1						TGGACAGCCTCCAGGGGTGCA	0.687000													5	18					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	119800227	119800227	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:119800227G>A	ENST00000407149.2	+	1	255	c.46G>A	c.(46-48)Gag>Aag	p.E16K	PRR16_ENST00000379551.2_5'UTR			Q569H4	PRR16_HUMAN	proline rich 16	16										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CTGTCCAGCCGAGGGACCGCC	0.612000													5	4					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47868155	47868155	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:47868155C>T	ENST00000396105.1	-	13	3467	c.3221G>A	c.(3220-3222)cGt>cAt	p.R1074H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1074							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGCACATACGGTGCTGAAA	0.433000													4	44					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589786	205589786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:205589786G>A	ENST00000357992.4	-	3	727	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	ELK4_ENST00000289703.4_Nonsense_Mutation_p.Q130*|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCACCAGGCTGAGGTGGTTTA	0.443000			T	SLC45A3	prostate								32	22					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110618349	110618349	+	Silent	SNP	A	A	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:110618349A>G	ENST00000242591.5	+	12	1817	c.1311A>G	c.(1309-1311)caA>caG	p.Q437Q	IFT81_ENST00000552912.1_Silent_p.Q437Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	437					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTCTTAAGCAACGTCATGAAA	0.353000													22	13					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080091	152080091	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:152080091C>T	ENST00000368804.1	-	2	5601	c.5602G>A	c.(5602-5604)Gag>Aag	p.E1868K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1868	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGCTCCTCTTCTTGCCAT	0.597000													27	65					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54666464	54666464	+	Silent	SNP	G	G	A	rs150616659		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:54666464G>A	ENST00000376591.4	-	10	1593	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	TMC4_ENST00000301187.4_Silent_p.L482L|TMC4_ENST00000416963.1_Silent_p.L70L	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	488						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAAAGAGCAGAAGTTTGTAC	0.572000													17	24					0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292231	17292231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:17292231C>T	ENST00000379052.5	+	4	828	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Nonsense_Mutation_p.Q153*|RBM24_ENST00000425446.2_Nonsense_Mutation_p.Q140*	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	198	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTACGCAGTCCAGCAGCCAAT	0.652000													16	13					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318525	30318525	+	Silent	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr10:30318525G>T	ENST00000375377.1	-	3	653	c.552C>A	c.(550-552)gtC>gtA	p.V184V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	184										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTCCAGGCTGACGTTCTGCC	0.507000													48	105					3.7052e-28	3.94498e-28	1	1	0
KBTBD13	390594	broad.mit.edu	37	15	65370401	65370401	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:65370401C>T	ENST00000432196.2	+	1	1248	c.1248C>T	c.(1246-1248)atC>atT	p.I416I		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	416						cytoplasm				lung(1)|prostate(1)|skin(1)	3						TCTACGCCATCGAGGGCGGCA	0.667000													6	8					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775381	47775381	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:47775381C>G	ENST00000376954.1	+	6	1704	c.1336C>G	c.(1336-1338)Caa>Gaa	p.Q446E	ZNF81_ENST00000338637.7_Missense_Mutation_p.Q446E			P51508	ZNF81_HUMAN	zinc finger protein 81	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TATCTGTACTCAATGTGGGCA	0.433000													13	20					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218961	180218961	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:180218961C>A	ENST00000446023.2	-	3	1761	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	MGAT1_ENST00000307826.4_Missense_Mutation_p.Q337H|MGAT1_ENST00000393340.3_Missense_Mutation_p.Q337H|MGAT1_ENST00000333055.3_Missense_Mutation_p.Q337H|MGAT1_ENST00000427865.2_Missense_Mutation_p.Q337H	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	337					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGCACAAACTGCTGGTTCA	0.577000													26	8					1.74197e-06	1.76755e-06	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97522534	97522534	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr9:97522534G>C	ENST00000375315.2	+	1	469	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C9orf3_ENST00000297979.5_Missense_Mutation_p.E157Q|C9orf3_ENST00000277198.2_Missense_Mutation_p.E157Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	157					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTAAAAGTCGAGGAGGTGGA	0.453000													30	66					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30865195	30865195	+	Silent	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:30865195C>G	ENST00000324771.8	+	17	2585	c.2037C>G	c.(2035-2037)ctC>ctG	p.L679L	DDR1_ENST00000513240.1_Silent_p.L685L|DDR1_ENST00000452441.1_Silent_p.L679L|DDR1_ENST00000361741.4_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L679L|DDR1_ENST00000376575.3_Silent_p.L685L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.L642L|DDR1_ENST00000454612.2_Silent_p.L642L|DDR1_ENST00000376569.3_Silent_p.L642L|DDR1_ENST00000418800.2_Silent_p.L642L|DDR1_ENST00000376567.2_Silent_p.L642L|DDR1_ENST00000508312.1_Silent_p.L660L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	679	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTCGAGGCTCAAGGACCCAA	0.562000													11	34					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128659	35128659	+	Silent	SNP	G	G	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr20:35128659G>A	ENST00000373913.3	+	10	2628	c.2148G>A	c.(2146-2148)caG>caA	p.Q716Q	DLGAP4_ENST00000373907.2_Silent_p.Q719Q|DLGAP4_ENST00000340491.4_Silent_p.Q180Q|DLGAP4_ENST00000339266.5_Silent_p.Q719Q|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.Q716Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	719					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGATACCCAGGATGCCAATG	0.617000													14	35					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151682264	151682264	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:151682264T>A	ENST00000290583.4	-	3	1025	c.232A>T	c.(232-234)Aac>Tac	p.N78Y	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.N78Y	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	78	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ATCGGCCTGTTCATCTGAAGG	0.637000													23	56					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69369207	69369207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:69369207G>C	ENST00000193403.6	-	8	1132	c.749C>G	c.(748-750)tCt>tGt	p.S250C	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Missense_Mutation_p.S185C|ACTN1_ENST00000438964.2_Missense_Mutation_p.S250C|ACTN1_ENST00000394419.4_Missense_Mutation_p.S250C|ACTN1_ENST00000538545.2_Missense_Mutation_p.S250C	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	250					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGGGCTCCAGAGAAGGCGTG	0.577000													19	58					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160142	104160142	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:104160142C>A	ENST00000414303.2	+	1	144	c.80C>A	c.(79-81)tCt>tAt	p.S27Y		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	27					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GGACGGACATCTATTGTTCAT	0.433000													36	216					3.50607e-19	3.7101e-19	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136600973	136600973	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:136600973G>C	ENST00000531224.1	-	3	284	c.32C>G	c.(31-33)tCa>tGa	p.S11*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S11*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	11					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTGACCTTGAAGAATGTGA	0.308000													8	121					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166485	9166485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:9166485C>T	ENST00000383836.3	-	2	611	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E62K|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	62	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGGAGTACTCGAGCTCAATC	0.562000			T	RAF1	pilocytic astrocytoma								14	29					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101448375	101448375	+	RNA	SNP	G	G	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr14:101448375G>T	ENST00000554693.2	+	0	635				SNORD114-21_ENST00000606412.1_RNA																							CTGGAACTCTGAGGTCCACCA	0.393000													8	62					0.0477658	0.047835	1	1	0
PLB1	151056	broad.mit.edu	37	2	28805334	28805334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr2:28805334C>G	ENST00000422425.2	+	24	1706	c.1662C>G	c.(1660-1662)taC>taG	p.Y554*	PLB1_ENST00000327757.5_Nonsense_Mutation_p.Y565*|PLB1_ENST00000329020.6_Nonsense_Mutation_p.Y253*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	565	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGGAGCTGTACCAGGAGAAAA	0.517000													15	7					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	45					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77252544	77252544	+	Silent	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr4:77252544C>T	ENST00000388914.3	-	20	3035	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363000													23	79					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318964	40318964	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:40318964G>C	ENST00000593685.1	-	6	1248	c.780C>G	c.(778-780)ttC>ttG	p.F260L	DYRK1B_ENST00000597639.1_Missense_Mutation_p.F260L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.F260L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.F260L|DYRK1B_ENST00000348817.3_Missense_Mutation_p.F260L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	260	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	p.F260F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGCTGCCGAAGTCCACAA	0.627000													7	39					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21667011	21667011	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chrX:21667011G>C	ENST00000425654.2	+	20	3145	c.2665G>C	c.(2665-2667)Gcc>Ccc	p.A889P	CNKSR2_ENST00000379510.3_Missense_Mutation_p.A919P	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	919					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACTGGAGCAGGCCAGTCTGTC	0.343000													26	42					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407494	150407494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr5:150407494C>T	ENST00000388825.4	+	5	576	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	GPX3_ENST00000517973.1_3'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	162					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CACCTCGGAGCTCCTGGGTAC	0.572000													19	17					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636988	18636988	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr11:18636988G>C	ENST00000336349.5	-	3	1068	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	278	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTTGGATGAAGACAAAGCGAG	0.502000													25	73					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	905726	905727	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:905726_905727insGG	ENST00000379409.2	+	3	283_284	c.253_254insGG	c.(253-255)cggfs	p.R85fs	PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.R85fs|PLEKHN1_ENST00000379407.3_Frame_Shift_Ins_p.R85fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	85										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAAGAAGGGGCGGCGGAGGGTG	0.624													13	43	---	---	---	---					
ZNF593	51042	broad.mit.edu	37	1	26497082	26497094	+	Frame_Shift_Del	DEL	GTCGAGCCCTACA	GTCGAGCCCTACA	-	rs137855017		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:26497082_26497094delGTCGAGCCCTACA	ENST00000270812.5	+	2	416_428	c.374_386delGTCGAGCCCTACA	c.(373-387)cgtcgagccctacagfs	p.RRALQ125fs	RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|ZNF593_ENST00000374266.5_Frame_Shift_Del_p.VEPYS94fs			O00488	ZN593_HUMAN	zinc finger protein 593	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	p.P96S(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTGAGCGTCGAGCCCTACAGTCAGGAAGA	0.596													15	73	---	---	---	---					
ZNF281	23528	broad.mit.edu	37	1	200378732	200378734	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr1:200378732_200378734delGCC	ENST00000294740.3	-	2	224_226	c.100_102delGGC	c.(100-102)ggcdel	p.G34del	ZNF281_ENST00000367352.3_In_Frame_Del_p.G34del|ZNF281_ENST00000367353.1_In_Frame_Del_p.G34del	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281		Gly-rich.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						Tgccgctgctgccgccgccgccg	0.680													2	4	---	---	---	---					
SEMA3F	6405	broad.mit.edu	37	3	50223330	50223355	+	Frame_Shift_Del	DEL	CTACGTGGCGTCAGCCGTGGGTGTCA	CTACGTGGCGTCAGCCGTGGGTGTCA	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr3:50223330_50223355delCTACGTGGCGTCAGCCGTGGGTGTCA	ENST00000002829.3	+	16	2080_2105	c.1596_1621delCTACGTGGCGTCAGCCGTGGGTGTCA	c.(1594-1623)ctctacgtggcgtcagccgtgggtgtcacafs	p.YVASAVGVT533fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.YVASAVGVT434fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.YVASAVGVT502fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	533	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGCAACAACTCTACGTGGCGTCAGCCGTGGGTGTCACACACCTGAG	0.646													7	49	---	---	---	---					
E2F3	1871	broad.mit.edu	37	6	20402595	20402597	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr6:20402595_20402597delCGC	ENST00000346618.3	+	1	198_200	c.132_134delCGC	c.(130-135)ttcgcc>ttc	p.A53del		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	53	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccgcc	0.724													9	457	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100360042	100360042	+	RNA	DEL	C	C	-	rs3857808		TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr7:100360042delC	ENST00000542585.1	+	0	4134				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGGAACtctctttttttttt	0.557													5	11	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr12:70091534delA	ENST00000330891.5	-	2	271	c.45delT	c.(43-45)tttfs	p.F15fs	BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.F15fs|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000551160.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	15						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353													10	3060	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													2	4	---	---	---	---					
E4F1	1877	broad.mit.edu	37	16	2285495	2285495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:2285495delC	ENST00000301727.4	+	14	2325	c.2277delC	c.(2275-2277)atcfs	p.I759fs	E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Frame_Shift_Del_p.I582fs	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	759					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGAGGACATCGAGATCCTGG	0.652													16	5	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3306483	3306485	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:3306483_3306485delCTT	ENST00000219596.1	-	1	142_144	c.103_105delAAG	c.(103-105)aagdel	p.K35del	MEFV_ENST00000536379.1_In_Frame_Del_p.K35del|MEFV_ENST00000339854.4_In_Frame_Del_p.K35del|MEFV_ENST00000541159.1_In_Frame_Del_p.K35del	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	35	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGGAGTGCTCCTTCTGCACACTG	0.586													7	44	---	---	---	---					
RLTPR	146206	broad.mit.edu	37	16	67685308	67685309	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:67685308_67685309insC	ENST00000334583.6	+	24	2646_2647	c.2318_2319insC	c.(2317-2322)ctccccfs	p.LP773fs	RLTPR_ENST00000545661.1_Frame_Shift_Ins_p.LP737fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	773										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTCAGATTCTCCCCATTCTAT	0.584													10	24	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70066043	70066043	+	RNA	DEL	A	A	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr16:70066043delA	ENST00000531894.1	-	0	751					NR_003610.1																						AGCCAAGCCGAAAAAAAAAAA	0.289													3	6	---	---	---	---					
MYO1F	4542	broad.mit.edu	37	19	8618223	8618246	+	Splice_Site	DEL	CCTCGTCTCACCTGGACCTTCTCG	CCTCGTCTCACCTGGACCTTCTCG	-			TCGA-DK-AA75-01A-11D-A391-08	TCGA-DK-AA75-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b765b-8418-4017-b39e-603257cf4b7d	b35c36fe-b1ab-4ddf-8f3e-22596793c1c0	g.chr19:8618223_8618246delCCTCGTCTCACCTGGACCTTCTCG	ENST00000338257.8	-	5	669_682	c.402_415delCGAGAAGGTCCAGGTGAGACGAGG	c.(400-417)ggcgagaaggtccaggtg>ggtg	p.EKVQV135del		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	135	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G134G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTTCTGTTTTCCTCGTCTCACCTGGACCTTCTCGCCTCCGCCAG	0.558													14	53	---	---	---	---					
