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
GRWD1	83743	broad.mit.edu	37	19	48949420	48949420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:48949420C>T	ENST00000253237.5	+	1	391	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	53						nucleolus		p.A53V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GACGAGGAGGCCTATGTGCTC	0.677000											OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	0.014758	0	0
ITGA2B	3674	broad.mit.edu	37	17	42453323	42453323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:42453323C>T	ENST00000262407.5	-	25	2510	c.2479G>A	c.(2479-2481)Ggt>Agt	p.G827S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G827S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	827					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G827S(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGTGAAGACCATTCACAGTC	0.622000											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	97					0	0	0.029380	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765853	171765853	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:171765853C>T	ENST00000311601.5	-	13	2426	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	752	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.Q752Q(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGTCTCTGCTGGGGAGCCT	0.602000													17	133					0	0	0.043863	0	0
ACBD5	91452	broad.mit.edu	37	10	27507108	27507108	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:27507108C>T	ENST00000396271.3	-	7	756	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ACBD5_ENST00000375901.1_Silent_p.K101K|ACBD5_ENST00000375905.4_Silent_p.K175K|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375888.1_Silent_p.K219K	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	219					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCATCATTTTCTTATCTTTTA	0.353000													4	180					0	0	0.009096	0	0
MYO18B	84700	broad.mit.edu	37	22	26219555	26219555	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:26219555G>A	ENST00000335473.7	+	13	2855	c.2605G>A	c.(2605-2607)Gcc>Acc	p.A869T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A869T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A869T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	869	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGAACACGGCCACCTTCAA	0.562000													5	348					0	0	0.014758	0	0
GPR45	11250	broad.mit.edu	37	2	105859036	105859036	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:105859036C>T	ENST00000258456.1	+	1	837	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	241						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCTGCGGCAGCTCACCAGGGC	0.632000													6	86					0	0	0.047766	0	0
GHR	2690	broad.mit.edu	37	5	42713567	42713567	+	Missense_Mutation	SNP	G	G	C	rs139810242		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:42713567G>C	ENST00000230882.4	+	8	1011	c.821G>C	c.(820-822)gGa>gCa	p.G274A	GHR_ENST00000537449.1_Missense_Mutation_p.G87A|GHR_ENST00000357703.3_Missense_Mutation_p.G252A	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	274					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.G274E(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTATCTTTGGAATATTTGGG	0.328000													3	190					0	0	0.014758	0	0
RNF44	22838	broad.mit.edu	37	5	175959120	175959120	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:175959120C>T	ENST00000274811.4	-	3	706	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	RNF44_ENST00000537487.1_5'UTR	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	61	Pro-rich.						zinc ion binding	p.R61Q(2)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGAGGTCGGGACGGCGG	0.726000													7	27					0	0	0.047766	0	0
CEP97	79598	broad.mit.edu	37	3	101476618	101476618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:101476618G>A	ENST00000341893.3	+	9	1920	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.D390N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	390	CEP110 binding.					centrosome|nucleus	protein binding	p.D390N(4)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CATACAGACGGATGAGGACAA	0.418000													16	62					0	0	0.038395	0	0
ZNF229	7772	broad.mit.edu	37	19	44934535	44934535	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:44934535G>C	ENST00000291187.4	-	6	725	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q141E|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	141					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)				TCCCACCCTTGATGGGGAGCA	0.483000													3	114					0	0	0.115264	0	0
GPR183	1880	broad.mit.edu	37	13	99947512	99947512	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr13:99947512C>G	ENST00000376414.4	-	2	971	c.888G>C	c.(886-888)ctG>ctC	p.L296L	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	296					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGAAGTTCATCAGGCATACTG	0.378000													3	115					0	0	0.115264	0	0
UBR4	23352	broad.mit.edu	37	1	19491762	19491762	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:19491762G>A	ENST00000375267.2	-	31	4296	c.4293C>T	c.(4291-4293)ttC>ttT	p.F1431F	UBR4_ENST00000375217.2_Silent_p.F1431F|UBR4_ENST00000375254.3_Silent_p.F1431F|UBR4_ENST00000375226.2_Silent_p.F1431F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1431					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAGTTTGGTGAAGAATTTCA	0.428000													5	282					0	0	0.014758	0	0
PKP2	5318	broad.mit.edu	37	12	32955458	32955458	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:32955458C>T	ENST00000340811.4	-	10	2154	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	PKP2_ENST00000070846.6_Silent_p.Q726Q	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	726					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACTTTCCTTCTGGACAACTG	0.453000													7	177					0	0	0.038147	0	0
NETO1	81832	broad.mit.edu	37	18	70416305	70416305	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:70416305A>G	ENST00000327305.6	-	10	2217	c.1560T>C	c.(1558-1560)tcT>tcC	p.S520S	NETO1_ENST00000583169.1_Silent_p.S520S|NETO1_ENST00000299430.2_Silent_p.S519S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	520					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S520S(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTTGCTTAGAGACCCAATGA	0.343000													21	55					0	0	0.091800	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000													6	318					0	0	0.021553	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631261	99631261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:99631261G>A	ENST00000324306.6	+	6	1367	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R342K|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R165K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R378K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGTCTCACAGATGTGATGAA	0.473000													4	139					0	0	0.009096	0	0
INTS4	92105	broad.mit.edu	37	11	77618831	77618831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr11:77618831G>A	ENST00000534064.1	-	16	1982	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	INTS4_ENST00000535943.1_Nonsense_Mutation_p.Q25*|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	650					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AATTCAGATTGAAGTTCTCCA	0.408000													5	78					0	0	0.038147	0	0
SBF1	6305	broad.mit.edu	37	22	50885835	50885835	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:50885835G>A	ENST00000380817.2	-	40	5682	c.5499C>T	c.(5497-5499)atC>atT	p.I1833I	SBF1_ENST00000348911.6_Silent_p.I1808I|SBF1_ENST00000390679.3_Silent_p.I1807I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1807	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCAAGTCGATGACACCCT	0.652000													5	115					0	0	0.038147	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416986	107416986	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:107416986A>G	ENST00000340010.5	-	15	1772	c.1588T>C	c.(1588-1590)Tat>Cat	p.Y530H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Y495H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	530	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.Y530H(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTGGCTCATACATCTGTAAG	0.378000													17	43					0	0	0.033300	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716167	48716167	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:48716167C>G	ENST00000294129.2	-	12	1914	c.1795G>C	c.(1795-1797)Gac>Cac	p.D599H	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D592H|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D599H	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	599	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCACAGGGTCATCTAGGAGG	0.592000													5	204					0	0	0.014758	0	0
PREPL	9581	broad.mit.edu	37	2	44571027	44571027	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:44571027A>G	ENST00000541738.1	-	4	592	c.206T>C	c.(205-207)aTt>aCt	p.I69T	PREPL_ENST00000409957.1_Missense_Mutation_p.I69T|PREPL_ENST00000260648.6_Missense_Mutation_p.I158T|PREPL_ENST00000409411.1_Missense_Mutation_p.I69T|PREPL_ENST00000409272.1_Missense_Mutation_p.I158T|PREPL_ENST00000409936.1_Missense_Mutation_p.I158T|PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000410081.1_Missense_Mutation_p.I158T|PREPL_ENST00000378511.3_Missense_Mutation_p.I158T|PREPL_ENST00000378520.3_Missense_Mutation_p.I158T	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	158					proteolysis	cytosol	serine-type endopeptidase activity	p.I158T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATACAATCAATGAAGGGCTG	0.343000													33	51					0	0	0.059317	0	0
TMEM251	26175	broad.mit.edu	37	14	93651788	93651788	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:93651788C>T	ENST00000415050.2	+	1	431	c.56C>T	c.(55-57)tCt>tTt	p.S19F	RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		CTGAGTGACTCTTTAACGCTT	0.498000													5	241					0	0	0.021553	0	0
REC8	9985	broad.mit.edu	37	14	24648000	24648000	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24648000G>A	ENST00000311457.3	+	15	1677	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	REC8_ENST00000559919.1_Missense_Mutation_p.E360K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	361	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCTACCCCCTGAACTACTGGG	0.582000													13	779					0	0	0.119110	0	0
HARS	3035	broad.mit.edu	37	5	140056669	140056669	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:140056669C>T	ENST00000504366.1	-	8	2468	c.649G>A	c.(649-651)Gat>Aat	p.D217N	HARS_ENST00000431330.2_Missense_Mutation_p.D172N|HARS_ENST00000457527.2_Missense_Mutation_p.D266N|HARS_ENST00000307633.3_Missense_Mutation_p.D226N|HARS_ENST00000415192.2_Missense_Mutation_p.D212N|HARS_ENST00000448240.1_Missense_Mutation_p.D91N|HARS_ENST00000504156.1_Missense_Mutation_p.D286N|HARS_ENST00000438307.2_Missense_Mutation_p.D246N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	286					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGTTTAGGATCCTGGAGCAGC	0.507000													8	526					0	0	0.047766	0	0
ITSN1	6453	broad.mit.edu	37	21	35260596	35260596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:35260596G>A	ENST00000381318.3	+	40	5446	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1659K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1715K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1720K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1720					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	p.E1720K(2)		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						GTTGTTTGATGAGCCGTAGGC	0.547000													17	32					0	0	0.033300	0	0
FRYL	285527	broad.mit.edu	37	4	48636353	48636353	+	Silent	SNP	A	A	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:48636353A>C	ENST00000537810.1	-	4	679	c.75T>G	c.(73-75)gcT>gcG	p.A25A	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.A25A|FRYL_ENST00000507711.1_Silent_p.A25A|FRYL_ENST00000358350.4_Silent_p.A25A			O94915	FRYL_HUMAN	FRY-like	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A25A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTTGAACAGCAAATTCTG	0.368000													18	58					0	0	0.033300	0	0
WDR91	29062	broad.mit.edu	37	7	134896244	134896244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:134896244G>A	ENST00000354475.4	-	1	42	c.11C>T	c.(10-12)gCc>gTc	p.A4V	WDR91_ENST00000344400.5_Missense_Mutation_p.A4V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	4								p.A4V(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCGCTCCACGGCCTCCGCCAT	0.706000													22	49					0	0	0.125774	0	0
COL14A1	7373	broad.mit.edu	37	8	121313043	121313043	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr8:121313043C>G	ENST00000297848.3	+	36	4657	c.4387C>G	c.(4387-4389)Cca>Gca	p.P1463A	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1368A|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1463A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1463	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1463A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTGGGACCAGCGGGCCC	0.418000													6	213					0	0	0.047766	0	0
MYH7B	57644	broad.mit.edu	37	20	33575404	33575404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:33575404C>A	ENST00000262873.7	+	15	1410	c.1318C>A	c.(1318-1320)Ctc>Atc	p.L440I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	398	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.L440I(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGGGACCTCCTCAAAGG	0.637000													142	239					3.10949e-78	3.65445e-78	0.139131	1	0
ANKRD12	23253	broad.mit.edu	37	18	9275652	9275652	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:9275652C>T	ENST00000383440.2	+	10	6082	c.5825C>T	c.(5824-5826)cCa>cTa	p.P1942L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1942L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1965L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1965						nucleus		p.P1965L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACAATGTACCATTGGACTCT	0.358000													21	77					0	0	0.049695	0	0
C22orf29	79680	broad.mit.edu	37	22	19839364	19839364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:19839364C>A	ENST00000405640.1	-	2	1089	c.421G>T	c.(421-423)Gag>Tag	p.E141*	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.E141*|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.E141*			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	141								p.E141*(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTGAGGATCTCGCAGACACGG	0.612000													7	253					3.09899e-07	3.42994e-07	0.047766	1	0
TBC1D4	9882	broad.mit.edu	37	13	75915719	75915719	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr13:75915719G>C	ENST00000377636.3	-	6	1759	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.L471L|TBC1D4_ENST00000377625.2_Silent_p.L471L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	471						cytoplasm	Rab GTPase activator activity	p.L471L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGGTGGGTAGAGACCTAAGG	0.453000													3	75					0	0	0.009096	0	0
MKI67	4288	broad.mit.edu	37	10	129903821	129903821	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:129903821C>T	ENST00000368654.3	-	13	6658	c.6283G>A	c.(6283-6285)Gat>Aat	p.D2095N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1735N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2095	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTTTGTCATCAGTTGTTGAT	0.498000													14	550					0	0	0.105934	0	0
ZNF462	58499	broad.mit.edu	37	9	109691539	109691539	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr9:109691539C>T	ENST00000277225.5	+	3	5635	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	ZNF462_ENST00000441147.2_Silent_p.I627I|ZNF462_ENST00000457913.1_Silent_p.I1782I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1782					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAAGGGCATCGTGTCCCATT	0.572000													7	222					0	0	0.029380	0	0
LARP4B	23185	broad.mit.edu	37	10	909728	909728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:909728G>T	ENST00000316157.3	-	4	425	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	129							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAGGGACCCAGAGCGAGAGCG	0.507000													4	110					2.56e-06	2.80615e-06	0.009096	1	0
MAGEC3	139081	broad.mit.edu	37	X	140983139	140983139	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:140983139G>C	ENST00000298296.1	+	5	994	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	MAGEC3_ENST00000448920.1_Missense_Mutation_p.E84Q|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	332	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGCGAGGAGTCTGGACT	0.577000													6	352					0	0	0.021553	0	0
COL11A1	1301	broad.mit.edu	37	1	103491388	103491388	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:103491388G>C	ENST00000358392.2	-	6	1218	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q301E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTGATGCTTGATAACTTTTC	0.363000													3	89					0	0	0.115264	0	0
CDCA7	83879	broad.mit.edu	37	2	174224196	174224196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:174224196G>C	ENST00000306721.3	+	3	464	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.E77Q|CDCA7_ENST00000347703.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	43					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGGTTTCTCAGAGAGTGAGAT	0.383000													3	142					0	0	0.115264	0	0
ZNF2	7549	broad.mit.edu	37	2	95847140	95847140	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:95847140C>G	ENST00000398107.2	+	4	963	c.441C>G	c.(439-441)ctC>ctG	p.L147L	ZNF2_ENST00000340539.5_Silent_p.L189L|ZNF2_ENST00000453539.2_Silent_p.L202L|ZNF2_ENST00000425369.1_Silent_p.L109L|ZNF2_ENST00000295210.6_Silent_p.L151L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACTCATCCCTCACCCGCCATC	0.572000													4	122					0	0	0.009096	0	0
LRIT3	345193	broad.mit.edu	37	4	110790984	110790984	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:110790984G>A	ENST00000327908.3	+	4	1294	c.530G>A	c.(529-531)aGa>aAa	p.R177K	LRIT3_ENST00000594814.1_Missense_Mutation_p.R360K|LRIT3_ENST00000379920.3_Missense_Mutation_p.R315K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R177K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	315	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACTTCTGAAAGAACTGGAGAT	0.478000													6	177					0	0	0.047766	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:140581561C>T	ENST00000354757.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	PCDHB11_ENST00000536699.1_Silent_p.D373D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D738D(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612000													9	279					0	0	0.047766	0	0
COL6A3	1293	broad.mit.edu	37	2	238277314	238277314	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:238277314C>G	ENST00000295550.4	-	10	5244	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.E1392Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1392Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1397Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1398Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E991Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1598	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCTGAACTCTCGCACTGTG	0.547000													6	294					0	0	0.021553	0	0
GLG1	2734	broad.mit.edu	37	16	74496473	74496473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:74496473G>T	ENST00000422840.2	-	21	2846	c.2847C>A	c.(2845-2847)ttC>ttA	p.F949L	GLG1_ENST00000447066.2_Missense_Mutation_p.F938L|GLG1_ENST00000205061.5_Missense_Mutation_p.F949L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	949						Golgi membrane|integral to membrane	receptor binding	p.F949L(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TACCGTGACAGAATTTAGGAA	0.433000													29	77					4.4194e-11	5.03812e-11	0.054565	1	0
AHI1	54806	broad.mit.edu	37	6	135787398	135787398	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:135787398C>G	ENST00000367800.4	-	5	519	c.303G>C	c.(301-303)ttG>ttC	p.L101F	AHI1_ENST00000327035.6_Missense_Mutation_p.L101F|AHI1_ENST00000457866.2_Missense_Mutation_p.L101F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	101						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTGTTCCTCAATTTGTTTT	0.398000													6	155					0	0	0.021553	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099641	142099641	+	RNA	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:142099641T>C	ENST00000390359.3	-	0	199																											GGCCTGTTGGTACCAAAAAAG	0.512000													12	78					0	0	0.105934	0	0
CELSR3	1951	broad.mit.edu	37	3	48682238	48682238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:48682238C>A	ENST00000544264.1	-	27	8291	c.8011G>T	c.(8011-8013)Gag>Tag	p.E2671*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.E2666*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2666					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATAGCCCTCAGGGTCCAGG	0.582000													5	67					0.000602214	0.000641612	0.014758	1	0
AATF	26574	broad.mit.edu	37	17	35344013	35344013	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:35344013A>G	ENST00000225402.5	+	5	1181	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	310	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.T310T(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TAGATGGGACAAAGCCCAATG	0.403000													20	81					0	0	0.055883	0	0
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483000													51	172					0	0	0.139131	0	0
RYR1	6261	broad.mit.edu	37	19	39001159	39001159	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:39001159G>A	ENST00000355481.4	+	59	9085	c.8954G>A	c.(8953-8955)cGa>cAa	p.R2985Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R2985Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2985Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2985					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2985L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAGTGGGCGAGTGGAAAAG	0.562000													4	129					0	0	0.009096	0	0
AHCTF1	25909	broad.mit.edu	37	1	247021048	247021048	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:247021048A>G	ENST00000366508.1	-	30	4442	c.4306T>C	c.(4306-4308)Tta>Cta	p.L1436L	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.L1410L|AHCTF1_ENST00000391829.2_Silent_p.L1401L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1401	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACCGGGCTTAAGTGATTCAAT	0.338000													4	69					0	0	0.029380	0	0
CABLES2	81928	broad.mit.edu	37	20	60967531	60967531	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:60967531C>T	ENST00000279101.5	-	8	1013	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	335					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGAGGGCTTCACGTATTCTA	0.557000													6	207					0	0	0.029380	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126786	40126786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:40126786G>A	ENST00000235628.1	-	5	705	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	236					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCTTCTCATGCTCGAAGAAT	0.632000													6	283					0	0	0.021553	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535874	72535874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr11:72535874C>T	ENST00000321297.5	+	9	1121	c.983C>T	c.(982-984)gCt>gTt	p.A328V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	328					autophagy|protein transport	cytoplasm	protein binding	p.A328V(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCTACCCGGGCTCAGGATGTG	0.612000													9	46					0	0	0.058154	0	0
CLIP4	79745	broad.mit.edu	37	2	29356672	29356672	+	Silent	SNP	G	G	A	rs150045383		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:29356672G>A	ENST00000320081.5	+	5	774	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_ENST00000404424.1_Silent_p.S173S|CLIP4_ENST00000401605.1_Silent_p.S173S|CLIP4_ENST00000401617.2_Silent_p.S66S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173								p.S173S(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328000													3	55					0	0	0.009096	0	0
CARD6	84674	broad.mit.edu	37	5	40853274	40853274	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:40853274G>C	ENST00000254691.5	+	3	2039	c.1840G>C	c.(1840-1842)Gat>Cat	p.D614H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	614					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGAGAGGGGAGATGCTGGGGA	0.502000													9	344					0	0	0.047766	0	0
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502000													27	90					1.80694e-10	2.03952e-10	0.144211	1	0
POMGNT1	55624	broad.mit.edu	37	1	46663386	46663386	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:46663386C>T	ENST00000396420.3	-	2	744	c.108G>A	c.(106-108)cgG>cgA	p.R36R	POMGNT1_ENST00000371986.3_Silent_p.R36R|POMGNT1_ENST00000371984.3_Silent_p.R36R|POMGNT1_ENST00000371992.1_Silent_p.R36R			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	36					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GACAGAATCTCCGCAGGGCCC	0.592000													4	161					0	0	0.009096	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128410	20128410	+	Missense_Mutation	SNP	C	C	T	rs137905034		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:20128410C>T	ENST00000334554.7	+	7	910	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P165S|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P257S|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	257						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.P257S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGAGCCACCCCGGCTGCC	0.627000													19	70					0	0	0.091800	0	0
IL2RG	3561	broad.mit.edu	37	X	70330436	70330436	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:70330436G>A	ENST00000374202.2	-	3	463	c.372C>T	c.(370-372)ctC>ctT	p.L124L	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	124					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATGTTTGGTAGAGGTGGATCT	0.448000									Severe Combined Immunodeficiency, X-linked				6	230					0	0	0.029380	0	0
MLLT4	4301	broad.mit.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:168349093T>C	ENST00000366806.2	+	29	3887	c.3745T>C	c.(3745-3747)Tgg>Cgg	p.W1249R	MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256R|MLLT4_ENST00000447894.2_Missense_Mutation_p.W1249R|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249R|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248R|MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249R|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458000			T	MLL	AL								4	89					0	0	0.014758	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883006	43883006	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:43883006G>A	ENST00000443950.2	-	3	813	c.327C>T	c.(325-327)aaC>aaT	p.N109N	HNRNPF_ENST00000337970.3_Silent_p.N109N|HNRNPF_ENST00000356053.3_Silent_p.N109N|HNRNPF_ENST00000544000.1_Silent_p.N109N|HNRNPF_ENST00000357065.4_Silent_p.N109N	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	109					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CGAAGCCATCGTTGGCGCTGT	0.512000													4	115					0	0	0.009096	0	0
POTEH	23784	broad.mit.edu	37	22	16267027	16267027	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:16267027G>C	ENST00000343518.6	-	9	1473	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474								p.A474A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTCAGCAGTGGCACCGTTAG	0.408000													5	249					0	0	0.014758	0	0
PLD2	5338	broad.mit.edu	37	17	4719995	4719995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:4719995C>G	ENST00000263088.6	+	15	1667	c.1536C>G	c.(1534-1536)agC>agG	p.S512R	PLD2_ENST00000572940.1_Missense_Mutation_p.S512R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	512	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S512R(4)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGGACTACAGCAATCTTATCA	0.607000													51	184					0	0	0.139131	0	0
PACS2	23241	broad.mit.edu	37	14	105859567	105859567	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:105859567C>G	ENST00000447393.1	+	23	2633	c.2458C>G	c.(2458-2460)Ctg>Gtg	p.L820V	PACS2_ENST00000547217.1_Missense_Mutation_p.L786V|PACS2_ENST00000430725.2_Missense_Mutation_p.L741V|PACS2_ENST00000551801.1_Missense_Mutation_p.L17V|PACS2_ENST00000458164.2_Missense_Mutation_p.L831V|PACS2_ENST00000551743.1_Missense_Mutation_p.L330V|PACS2_ENST00000325438.8_Missense_Mutation_p.L816V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	816					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGATGTTTCTGCCCAAGAA	0.612000													3	163					0	0	0.009096	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:12887399C>T	ENST00000535591.1	-	3	653	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000													139	410					0	0	0.139131	0	0
ZNF558	148156	broad.mit.edu	37	19	8922322	8922322	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:8922322G>A	ENST00000601372.1	-	10	1555	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ZNF558_ENST00000301475.1_Missense_Mutation_p.H282Y|ZNF558_ENST00000444186.2_Missense_Mutation_p.H211Y			Q96NG5	ZN558_HUMAN	zinc finger protein 558	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H282Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATGCTATTGTGCCCAGTGAGA	0.453000													17	88					0	0	0.049695	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:73163796G>A	ENST00000545377.1	+	19	2424	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G750R|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G750R|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G437R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G750R	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.G750R(4)									GGAGACTGTGGGACAGGTCCA	0.522000													12	21					0	0	0.080935	0	0
RTN2	6253	broad.mit.edu	37	19	45998365	45998365	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:45998365C>G	ENST00000245923.4	-	2	302	c.67G>C	c.(67-69)Gat>Cat	p.D23H	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.D23H|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	23						integral to endoplasmic reticulum membrane	signal transducer activity	p.D23H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTGTGGAATCAGGAGTTGAG	0.547000													13	195					0	0	0.105934	0	0
SKIL	6498	broad.mit.edu	37	3	170079039	170079039	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:170079039C>G	ENST00000458537.3	+	1	1629	c.920C>G	c.(919-921)tCt>tGt	p.S307C	SKIL_ENST00000259119.4_Missense_Mutation_p.S307C|SKIL_ENST00000426052.2_Missense_Mutation_p.S287C|SKIL_ENST00000413427.2_Missense_Mutation_p.S307C	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	307					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTGATGCATTCTCACAGATCA	0.433000													5	141					0	0	0.021553	0	0
GALT	2592	broad.mit.edu	37	9	34648807	34648807	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr9:34648807T>G	ENST00000378842.3	+	8	778	c.736T>G	c.(736-738)Tgg>Ggg	p.W246G	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.W137G	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	246					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGTCCCCTTCTGGGCAACATG	0.572000									Galactosemia				6	194					0	0	0.038147	0	0
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr9:6592946C>G	ENST00000321612.6	-	10	1456	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507000													3	95					0	0	0.115264	0	0
LEO1	123169	broad.mit.edu	37	15	52258273	52258273	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:52258273C>T	ENST00000299601.5	-	2	547	c.487G>A	c.(487-489)Gat>Aat	p.D163N	LEO1_ENST00000315141.5_Missense_Mutation_p.D163N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	163	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.D163N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCATCATCAGAATTTTGT	0.413000													8	321					0	0	0.047766	0	0
MAML3	55534	broad.mit.edu	37	4	140641170	140641170	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:140641170C>G	ENST00000509479.2	-	5	3580	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G908G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATTCCAACCCCCTGCCCAG	0.557000													98	336					0	0	0.139131	0	0
KLHL28	54813	broad.mit.edu	37	14	45403577	45403577	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:45403577C>G	ENST00000396128.4	-	3	1203	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H	KLHL28_ENST00000355081.2_Missense_Mutation_p.D376H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	362										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATTTGTATCAGGATTCCAG	0.388000													3	75					0	0	0.115264	0	0
ABCA4	24	broad.mit.edu	37	1	94546205	94546205	+	Missense_Mutation	SNP	C	C	G	rs61753055		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:94546205C>G	ENST00000370225.3	-	8	1014	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.E310Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	310					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAAAGGTCTCTGGACCACCA	0.537000													4	191					0	0	0.009096	0	0
PAQR9	344838	broad.mit.edu	37	3	142681704	142681704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:142681704C>T	ENST00000340634.3	-	1	474	c.475G>A	c.(475-477)Gcg>Acg	p.A159T		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity	p.A159T(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CTGATGGACGCGTAGTCCAGG	0.612000													7	24					0	0	0.080935	0	0
TCFL5	10732	broad.mit.edu	37	20	61488962	61488962	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:61488962C>G	ENST00000335351.3	-	4	1115	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	TCFL5_ENST00000217162.5_Missense_Mutation_p.K293N	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	341					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.K341N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCGATTCCTCTTCAGTGCTT	0.438000													5	149					0	0	0.021553	0	0
PSME2	5721	broad.mit.edu	37	14	24614335	24614335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24614335C>A	ENST00000216802.5	-	6	931	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Nonsense_Mutation_p.E87*	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGGACTTTCTCATTCCCAGGG	0.507000													6	229					3.59834e-05	3.90676e-05	0.021553	1	0
PWP2	5822	broad.mit.edu	37	21	45540840	45540840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:45540840C>T	ENST00000291576.7	+	13	1620	c.1493C>T	c.(1492-1494)tCt>tTt	p.S498F		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	498						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGTTTTGTCTGGACACGAA	0.607000													4	128					0	0	0.009096	0	0
LRIT3	345193	broad.mit.edu	37	4	110790932	110790932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:110790932G>T	ENST00000327908.3	+	4	1242	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	LRIT3_ENST00000594814.1_Missense_Mutation_p.V343L|LRIT3_ENST00000379920.3_Missense_Mutation_p.V298L|LRIT3_ENST00000409621.2_Missense_Mutation_p.V160L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	298	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTGGTTACTGTGACAGTGCT	0.478000													6	103					0.00198382	0.00209403	0.029380	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37947308	37947308	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:37947308G>A	ENST00000373087.6	+	4	806	c.690G>A	c.(688-690)gtG>gtA	p.V230V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	230					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATTCATTGTGAAGCTGGCCT	0.577000													7	199					0	0	0.029380	0	0
OPHN1	4983	broad.mit.edu	37	X	67430108	67430108	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:67430108G>A	ENST00000355520.5	-	9	1360	c.719C>T	c.(718-720)tCc>tTc	p.S240F	OPHN1_ENST00000540071.1_Missense_Mutation_p.S240F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	240					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S240F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCGGGTACTGGAGAAATGATT	0.378000													13	42					0	0	0.105934	0	0
FILIP1	27145	broad.mit.edu	37	6	76063272	76063272	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:76063272C>T	ENST00000393004.2	-	4	833	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FILIP1_ENST00000237172.7_Silent_p.L204L|FILIP1_ENST00000370020.1_Silent_p.L105L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	204								p.L204L(2)		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						GCTCCTGCTCCAGCAGGTTGG	0.527000													57	239					0	0	0.139131	0	0
PFKM	5213	broad.mit.edu	37	12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:48536575G>A	ENST00000340802.6	+	20	2101	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	555					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488000													4	171					0	0	0.014758	0	0
KIF22	3835	broad.mit.edu	37	16	29816619	29816619	+	Silent	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:29816619T>C	ENST00000561482.1	+	14	2419	c.1782T>C	c.(1780-1782)tgT>tgC	p.C594C	KIF22_ENST00000160827.4_Silent_p.C662C|KIF22_ENST00000400751.5_Silent_p.C594C|KIF22_ENST00000569382.2_Silent_p.C608C	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	662					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.C662C(2)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCAGCGCTGTGGCGCCTCCT	0.592000													55	287					0	0	0.139131	0	0
PRDM16	63976	broad.mit.edu	37	1	3319367	3319367	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:3319367T>C	ENST00000378398.3	+	7	774	c.692T>C	c.(691-693)tTc>tCc	p.F231S	PRDM16_ENST00000514189.1_Missense_Mutation_p.F231S|PRDM16_ENST00000511072.1_Missense_Mutation_p.F231S|PRDM16_ENST00000442529.2_Missense_Mutation_p.F230S|PRDM16_ENST00000441472.2_Missense_Mutation_p.F230S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.F230S|PRDM16_ENST00000270722.5_Missense_Mutation_p.F230S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	230					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.F230S(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGCCCACGTTCCGCTGTGAC	0.627000			T	EVI1	"""MDS, AML"""								24	90					0	0	0.091800	0	0
CPA3	1359	broad.mit.edu	37	3	148586705	148586705	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:148586705G>C	ENST00000296046.3	+	3	200	c.148G>C	c.(148-150)Gac>Cac	p.D50H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	50					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.D50H(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTGCAGCTTGACTTCTGGTA	0.428000													5	96					0	0	0.021553	0	0
GTSE1	51512	broad.mit.edu	37	22	46712182	46712182	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:46712182C>T	ENST00000454366.1	+	7	1517	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	416					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ACTCCAGTTGCGCTTGGTCAG	0.532000													7	121					0	0	0.029380	0	0
ADCY9	115	broad.mit.edu	37	16	4042323	4042323	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:4042323G>A	ENST00000294016.3	-	5	2569	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	ADCY9_ENST00000571889.1_Intron	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	677					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGGAGGGCTGAGGAGCCCGT	0.592000													5	95					0	0	0.014758	0	0
MCF2	4168	broad.mit.edu	37	X	138698557	138698557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:138698557C>A	ENST00000520602.1	-	12	1540	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MCF2_ENST00000519895.1_Missense_Mutation_p.A419S|MCF2_ENST00000414978.1_Missense_Mutation_p.A419S|MCF2_ENST00000338585.6_Missense_Mutation_p.A359S|MCF2_ENST00000370573.4_Missense_Mutation_p.A359S|MCF2_ENST00000370578.4_Missense_Mutation_p.A504S|MCF2_ENST00000370576.4_Missense_Mutation_p.A359S|MCF2_ENST00000536274.1_Missense_Mutation_p.A320S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A359S(2)|p.A419S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCTTTCTGAGCATCTTCTTTA	0.343000													3	37					6.4e-05	6.88302e-05	0.115264	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057394	46057394	+	Silent	SNP	C	C	T	rs150164802		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:46057394C>T	ENST00000380095.1	+	1	122	c.60C>T	c.(58-60)gtC>gtT	p.V20V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament		p.V20V(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCGGGTAGTCGACTGCCCAG	0.672000													13	161					0	0	0.134883	0	0
ZNF831	128611	broad.mit.edu	37	20	57768653	57768653	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:57768653C>T	ENST00000371030.2	+	1	2579	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	860						intracellular	nucleic acid binding|zinc ion binding	p.A860V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCAGGATGCCGATCCCGGG	0.652000													4	130					0	0	0.014758	0	0
NLRC4	58484	broad.mit.edu	37	2	32476318	32476318	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:32476318G>A	ENST00000404025.2	-	5	1103	c.615C>T	c.(613-615)ctC>ctT	p.L205L	NLRC4_ENST00000360906.5_Silent_p.L205L|NLRC4_ENST00000402280.1_Silent_p.L205L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	205	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGCCCTGCTGAGACGGAGGA	0.532000													4	123					0	0	0.014758	0	0
PAX1	5075	broad.mit.edu	37	20	21689285	21689285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:21689285G>T	ENST00000398485.2	+	3	1060	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	PAX1_ENST00000444366.2_Missense_Mutation_p.A312S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	336					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.A242S(2)|p.A336S(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCCACCCCCGCAGTGAATGG	0.602000													48	80					3.13296e-38	3.60765e-38	0.139131	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638177	234638177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:234638177G>T	ENST00000482026.1	+	1	424	c.405G>T	c.(403-405)gaG>gaT	p.E135D	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1												p.E135D(2)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACATAATGAGGCCCTGATCA	0.428000													93	299					3.07327e-39	3.57503e-39	0.139131	1	0
ESYT2	57488	broad.mit.edu	37	7	158552780	158552780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:158552780G>T	ENST00000251527.5	-	12	1501	c.1436C>A	c.(1435-1437)aCg>aAg	p.T479K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	507						integral to membrane|plasma membrane		p.T479K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGGCATTAACGTGAGCCACTC	0.458000													15	64					1.15088e-07	1.28627e-07	0.146539	1	0
FAM208B	54906	broad.mit.edu	37	10	5798640	5798640	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:5798640G>A	ENST00000328090.5	+	16	7296	c.6671G>A	c.(6670-6672)aGa>aAa	p.R2224K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2224																	GCTTTCCACAGAGAGAATGAT	0.373000													4	103					0	0	0.009096	0	0
TCFL5	10732	broad.mit.edu	37	20	61488847	61488847	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:61488847C>T	ENST00000335351.3	-	4	1230	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E332K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	380			E -> D (in dbSNP:rs34304654).		cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGTGAGGACTCCGAGGACTGC	0.572000													9	208					0	0	0.058154	0	0
IFT140	9742	broad.mit.edu	37	16	1616277	1616277	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:1616277C>G	ENST00000426508.2	-	16	2149	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	596										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATTTTGGAATCAGGGCTGTTG	0.507000													5	245					0	0	0.014758	0	0
MYH7B	57644	broad.mit.edu	37	20	33575404	33575404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:33575404C>A	ENST00000262873.7	+	15	1410	c.1318C>A	c.(1318-1320)Ctc>Atc	p.L440I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	398	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.L440I(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGGGACCTCCTCAAAGG	0.637000													121	194					3.68091e-61	4.11992e-61	0.014410	1	0
ITSN1	6453	broad.mit.edu	37	21	35260596	35260596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:35260596G>A	ENST00000381318.3	+	40	5446	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1659K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1720K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1715K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1720					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	p.E1720K(2)		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						GTTGTTTGATGAGCCGTAGGC	0.547000													12	31					0	0	0.010729	0	0
GRWD1	83743	broad.mit.edu	37	19	48949420	48949420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:48949420C>T	ENST00000253237.5	+	1	391	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	53						nucleolus		p.A53V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GACGAGGAGGCCTATGTGCTC	0.677000											OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.009096	0	0
ITGA2B	3674	broad.mit.edu	37	17	42453323	42453323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:42453323C>T	ENST00000262407.5	-	25	2510	c.2479G>A	c.(2479-2481)Ggt>Agt	p.G827S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G827S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	827					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G827S(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGTGAAGACCATTCACAGTC	0.622000											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	67					0	0	0.009096	0	0
PHKA2	5256	broad.mit.edu	37	X	18926043	18926043	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:18926043C>T	ENST00000379942.4	-	22	3157	c.2492G>A	c.(2491-2493)aGg>aAg	p.R831K		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	831	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R831K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CACTTTCTTCCTGAGAAGGCC	0.572000													9	277					0	0	0.004482	0	0
NARG2	79664	broad.mit.edu	37	15	60720680	60720680	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:60720680C>G	ENST00000261520.4	-	15	3002	c.2768G>C	c.(2767-2769)aGa>aCa	p.R923T	NARG2_ENST00000439632.1_Missense_Mutation_p.R786T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	923						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAGGTATTCTTCCATGATG	0.398000													4	177					0	0	0.009096	0	0
ACBD5	91452	broad.mit.edu	37	10	27507108	27507108	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:27507108C>T	ENST00000396271.3	-	7	756	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375901.1_Silent_p.K101K|ACBD5_ENST00000375905.4_Silent_p.K175K|ACBD5_ENST00000375888.1_Silent_p.K219K	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	219					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCATCATTTTCTTATCTTTTA	0.353000													5	190					0	0	0.021553	0	0
RNF213	57674	broad.mit.edu	37	17	78321357	78321357	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:78321357C>T	ENST00000582970.1	+	29	9365	c.9222C>T	c.(9220-9222)ttC>ttT	p.F3074F	RNF213_ENST00000336301.6_Silent_p.F1147F|RNF213_ENST00000508628.2_Silent_p.F3123F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTCTGGTTTCCCCAAGGACC	0.502000													6	209					0	0	0.029380	0	0
IPMK	253430	broad.mit.edu	37	10	59986896	59986896	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:59986896T>G	ENST00000373935.3	-	3	603	c.281A>C	c.(280-282)tAt>tCt	p.Y94S		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	94						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.Y94S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						GTCAGCAGCATAAACCTGAAA	0.348000													12	89					0	0	0.007413	0	0
NCAPH	23397	broad.mit.edu	37	2	97039033	97039033	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:97039033C>G	ENST00000455200.1	+	18	2432	c.2137C>G	c.(2137-2139)Cta>Gta	p.L713V	NCAPH_ENST00000240423.4_Missense_Mutation_p.L724V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L588V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	724					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.L724V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCCTCAGAATCTAAAACTGGA	0.433000													6	214					0	0	0.003080	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39477517	39477517	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:39477517G>C	ENST00000407997.3	+	4	865	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E170Q	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.E170Q(2)|p.E170K(1)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CAGCCAAAGAGAGCTATTTGA	0.478000													7	283					0	0	0.003080	0	0
RNF44	22838	broad.mit.edu	37	5	175959120	175959120	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:175959120C>T	ENST00000274811.4	-	3	706	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	RNF44_ENST00000537487.1_5'UTR	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	61	Pro-rich.						zinc ion binding	p.R61Q(2)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGAGGTCGGGACGGCGG	0.726000													3	18					0	0	0.029380	0	0
CEP97	79598	broad.mit.edu	37	3	101476618	101476618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:101476618G>A	ENST00000341893.3	+	9	1920	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.D390N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	390	CEP110 binding.					centrosome|nucleus	protein binding	p.D390N(4)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CATACAGACGGATGAGGACAA	0.418000													28	123					0	0	0.037714	0	0
PKP2	5318	broad.mit.edu	37	12	32955458	32955458	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:32955458C>T	ENST00000340811.4	-	10	2154	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	PKP2_ENST00000070846.6_Silent_p.Q726Q	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	726					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACTTTCCTTCTGGACAACTG	0.453000													8	251					0	0	0.004482	0	0
NETO1	81832	broad.mit.edu	37	18	70416305	70416305	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:70416305A>G	ENST00000327305.6	-	10	2217	c.1560T>C	c.(1558-1560)tcT>tcC	p.S520S	NETO1_ENST00000583169.1_Silent_p.S520S|NETO1_ENST00000299430.2_Silent_p.S519S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	520					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S520S(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTTGCTTAGAGACCCAATGA	0.343000													34	168					0	0	0.030466	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000													11	316					0	0	0.008291	0	0
JMJD4	65094	broad.mit.edu	37	1	227921232	227921232	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:227921232G>C	ENST00000366758.3	-	4	842	c.843C>G	c.(841-843)ctC>ctG	p.L281L	JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.L281L|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	281	JmjC.							p.L281L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTGTGTCGCAGAGTGCTGGGG	0.657000													6	59					0	0	0.004482	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631261	99631261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:99631261G>A	ENST00000324306.6	+	6	1367	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R342K|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R165K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R378K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGTCTCACAGATGTGATGAA	0.473000													6	121					0	0	0.003080	0	0
INTS4	92105	broad.mit.edu	37	11	77618831	77618831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr11:77618831G>A	ENST00000534064.1	-	16	1982	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	INTS4_ENST00000535943.1_Nonsense_Mutation_p.Q25*|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	650					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AATTCAGATTGAAGTTCTCCA	0.408000													4	89					0	0	0.003080	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416986	107416986	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:107416986A>G	ENST00000340010.5	-	15	1772	c.1588T>C	c.(1588-1590)Tat>Cat	p.Y530H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Y495H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	530	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.Y530H(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTGGCTCATACATCTGTAAG	0.378000													36	80					0	0	0.025465	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631162	99631162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:99631162G>C	ENST00000324306.6	+	6	1268	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R309T|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R132T	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	345					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R345T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGGAGAGAGAGGTCCAAGG	0.483000													4	69					0	0	0.009096	0	0
PREPL	9581	broad.mit.edu	37	2	44571027	44571027	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:44571027A>G	ENST00000541738.1	-	4	592	c.206T>C	c.(205-207)aTt>aCt	p.I69T	PREPL_ENST00000410081.1_Missense_Mutation_p.I158T|PREPL_ENST00000409936.1_Missense_Mutation_p.I158T|PREPL_ENST00000409957.1_Missense_Mutation_p.I69T|PREPL_ENST00000409411.1_Missense_Mutation_p.I69T|PREPL_ENST00000409272.1_Missense_Mutation_p.I158T|PREPL_ENST00000260648.6_Missense_Mutation_p.I158T|PREPL_ENST00000378511.3_Missense_Mutation_p.I158T|PREPL_ENST00000378520.3_Missense_Mutation_p.I158T|PREPL_ENST00000540817.1_5'UTR	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	158					proteolysis	cytosol	serine-type endopeptidase activity	p.I158T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATACAATCAATGAAGGGCTG	0.343000													60	151					0	0	0.014410	0	0
REC8	9985	broad.mit.edu	37	14	24648000	24648000	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24648000G>A	ENST00000311457.3	+	15	1677	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	REC8_ENST00000559919.1_Missense_Mutation_p.E360K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	361	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCTACCCCCTGAACTACTGGG	0.582000													8	559					0	0	0.004482	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444280	26444280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:26444280G>A	ENST00000244519.2	+	4	424	c.181G>A	c.(181-183)Gag>Aag	p.E61K	BTN3A3_ENST00000361232.3_Missense_Mutation_p.E19K|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E19K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	61	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CATGAGTGCAGAGACCATGGA	0.572000													5	252					0	0	0.021553	0	0
FRYL	285527	broad.mit.edu	37	4	48636353	48636353	+	Silent	SNP	A	A	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:48636353A>C	ENST00000537810.1	-	4	679	c.75T>G	c.(73-75)gcT>gcG	p.A25A	FRYL_ENST00000358350.4_Silent_p.A25A|FRYL_ENST00000507711.1_Silent_p.A25A|FRYL_ENST00000503238.1_Silent_p.A25A|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A25A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTTGAACAGCAAATTCTG	0.368000													46	128					0	0	0.014410	0	0
SNORA7B	677797	broad.mit.edu	37	3	129116166	129116166	+	RNA	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:129116166G>C	ENST00000384360.1	-	0	25				RPL32P3_ENST00000514355.1_RNA	NR_002992.2																						ATACTAGGCAGTCTCCAGATG	0.542000													4	228					0	0	0.009096	0	0
WDR91	29062	broad.mit.edu	37	7	134896244	134896244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:134896244G>A	ENST00000354475.4	-	1	42	c.11C>T	c.(10-12)gCc>gTc	p.A4V	WDR91_ENST00000344400.5_Missense_Mutation_p.A4V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	4								p.A4V(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCGCTCCACGGCCTCCGCCAT	0.706000													12	57					0	0	0.024245	0	0
COL14A1	7373	broad.mit.edu	37	8	121313043	121313043	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr8:121313043C>G	ENST00000297848.3	+	36	4657	c.4387C>G	c.(4387-4389)Cca>Gca	p.P1463A	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1368A|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1463A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1463	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1463A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTGGGACCAGCGGGCCC	0.418000													11	353					0	0	0.010729	0	0
RAD52	5893	broad.mit.edu	37	12	1022604	1022604	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:1022604G>C	ENST00000358495.3	-	12	1348	c.1210C>G	c.(1210-1212)Cat>Gat	p.H404D	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Missense_Mutation_p.H404D|RAD52_ENST00000539046.1_Missense_Mutation_p.H327D	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	404					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCTTCCTATGAGATTCCCAG	0.368000								Homologous recombination					6	262					0	0	0.021553	0	0
TCFL5	10732	broad.mit.edu	37	20	61488962	61488962	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:61488962C>G	ENST00000335351.3	-	4	1115	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	TCFL5_ENST00000217162.5_Missense_Mutation_p.K293N	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	341					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.K341N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCGATTCCTCTTCAGTGCTT	0.438000													5	181					0	0	0.021553	0	0
BRCA2	675	broad.mit.edu	37	13	32972777	32972777	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr13:32972777C>G	ENST00000544455.1	+	27	10354	c.10127C>G	c.(10126-10128)tCa>tGa	p.S3376*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S3376*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3376					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S3376*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCACCAGTTCAGAAGATTAT	0.413000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	92					0	0	0.014758	0	0
ANKRD12	23253	broad.mit.edu	37	18	9275652	9275652	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:9275652C>T	ENST00000383440.2	+	10	6082	c.5825C>T	c.(5824-5826)cCa>cTa	p.P1942L	ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1965L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1942L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1965						nucleus		p.P1965L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACAATGTACCATTGGACTCT	0.358000													42	154					0	0	0.010771	0	0
C22orf29	79680	broad.mit.edu	37	22	19839364	19839364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:19839364C>A	ENST00000405640.1	-	2	1089	c.421G>T	c.(421-423)Gag>Tag	p.E141*	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.E141*|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.E141*|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	141								p.E141*(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTGAGGATCTCGCAGACACGG	0.612000													8	204					9.70103e-10	1.02915e-09	0.008291	1	0
CMAS	55907	broad.mit.edu	37	12	22208509	22208509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:22208509G>A	ENST00000229329.2	+	3	654	c.524G>A	c.(523-525)cGc>cAc	p.R175H		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	175					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTTGTGAGACGCCATCAGTTT	0.323000													5	171					0	0	0.029380	0	0
MKI67	4288	broad.mit.edu	37	10	129903821	129903821	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:129903821C>T	ENST00000368654.3	-	13	6658	c.6283G>A	c.(6283-6285)Gat>Aat	p.D2095N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1735N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2095	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTTTGTCATCAGTTGTTGAT	0.498000													8	509					0	0	0.004482	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716054	48716054	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:48716054C>G	ENST00000294129.2	-	12	2027	c.1908G>C	c.(1906-1908)atG>atC	p.M636I	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.M636I|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.M629I	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	636					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGAGCCATCATGTCTGTGT	0.572000													4	116					0	0	0.009096	0	0
CCNI	10983	broad.mit.edu	37	4	77969418	77969418	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:77969418C>T	ENST00000237654.4	-	7	1664	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CCNI_ENST00000537948.1_Missense_Mutation_p.G349E	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	363					spermatogenesis			p.G363E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGAAGCATGTCCCTCTTGTCT	0.418000													9	169					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103491388	103491388	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:103491388G>C	ENST00000358392.2	-	6	1218	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q301E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTGATGCTTGATAACTTTTC	0.363000													10	289					0	0	0.008291	0	0
CDCA7	83879	broad.mit.edu	37	2	174224196	174224196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:174224196G>C	ENST00000306721.3	+	3	464	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	CDCA7_ENST00000410101.3_Missense_Mutation_p.E77Q|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000347703.3_Intron|CDCA7_ENST00000392567.2_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	43					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGGTTTCTCAGAGAGTGAGAT	0.383000													4	154					0	0	0.009096	0	0
OPHN1	4983	broad.mit.edu	37	X	67430108	67430108	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:67430108G>A	ENST00000355520.5	-	9	1360	c.719C>T	c.(718-720)tCc>tTc	p.S240F	OPHN1_ENST00000540071.1_Missense_Mutation_p.S240F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	240					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S240F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCGGGTACTGGAGAAATGATT	0.378000													28	86					0	0	0.024334	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:140581561C>T	ENST00000354757.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	PCDHB11_ENST00000536699.1_Silent_p.D373D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D738D(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612000													9	264					0	0	0.008291	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765853	171765853	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:171765853C>T	ENST00000311601.5	-	13	2426	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	752	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.Q752Q(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGTCTCTGCTGGGGAGCCT	0.602000													18	108					0	0	0.007413	0	0
WIPF2	147179	broad.mit.edu	37	17	38430162	38430162	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:38430162C>G	ENST00000323571.4	+	6	1331	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	WIPF2_ENST00000585043.1_Nonsense_Mutation_p.S364*|WIPF2_ENST00000394103.3_Nonsense_Mutation_p.S106*|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.S364*|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Nonsense_Mutation_p.S106*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	364						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCTCCACCCTCAAGGACGCCA	0.622000										HNSCC(43;0.11)			4	169					0	0	0.029380	0	0
GLG1	2734	broad.mit.edu	37	16	74496473	74496473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:74496473G>T	ENST00000422840.2	-	21	2846	c.2847C>A	c.(2845-2847)ttC>ttA	p.F949L	GLG1_ENST00000447066.2_Missense_Mutation_p.F938L|GLG1_ENST00000205061.5_Missense_Mutation_p.F949L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	949						Golgi membrane|integral to membrane	receptor binding	p.F949L(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TACCGTGACAGAATTTAGGAA	0.433000													29	91					4.59853e-10	4.92123e-10	0.027356	1	0
AHI1	54806	broad.mit.edu	37	6	135787398	135787398	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:135787398C>G	ENST00000367800.4	-	5	519	c.303G>C	c.(301-303)ttG>ttC	p.L101F	AHI1_ENST00000327035.6_Missense_Mutation_p.L101F|AHI1_ENST00000457866.2_Missense_Mutation_p.L101F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	101						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTGTTCCTCAATTTGTTTT	0.398000													8	416					0	0	0.004482	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099641	142099641	+	RNA	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:142099641T>C	ENST00000390359.3	-	0	199																											GGCCTGTTGGTACCAAAAAAG	0.512000													18	92					0	0	0.008871	0	0
AATF	26574	broad.mit.edu	37	17	35344013	35344013	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:35344013A>G	ENST00000225402.5	+	5	1181	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	310	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.T310T(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TAGATGGGACAAAGCCCAATG	0.403000													34	120					0	0	0.013726	0	0
PPP1R42	286187	broad.mit.edu	37	8	67923043	67923043	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr8:67923043G>A	ENST00000522909.1	-	5	643	c.459C>T	c.(457-459)atC>atT	p.I153I	PPP1R42_ENST00000324682.5_Silent_p.I153I			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	153																	TATTATTGCTGATATTCAATA	0.323000													5	133					0	0	0.029380	0	0
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483000													55	178					0	0	0.014410	0	0
CKAP5	9793	broad.mit.edu	37	11	46829658	46829658	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr11:46829658C>G	ENST00000529230.1	-	8	947	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	CKAP5_ENST00000312055.5_Missense_Mutation_p.E301Q|CKAP5_ENST00000415402.1_Missense_Mutation_p.E301Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E301Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	301					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						TCTACAGACTCCAGGGCCTCT	0.368000													6	471					0	0	0.029380	0	0
CABLES2	81928	broad.mit.edu	37	20	60967531	60967531	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:60967531C>T	ENST00000279101.5	-	8	1013	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	335					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGAGGGCTTCACGTATTCTA	0.557000													7	273					0	0	0.003080	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126786	40126786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:40126786G>A	ENST00000235628.1	-	5	705	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	236					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCTTCTCATGCTCGAAGAAT	0.632000													6	220					0	0	0.029380	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535874	72535874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr11:72535874C>T	ENST00000321297.5	+	9	1121	c.983C>T	c.(982-984)gCt>gTt	p.A328V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	328					autophagy|protein transport	cytoplasm	protein binding	p.A328V(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCTACCCGGGCTCAGGATGTG	0.612000													12	47					0	0	0.016723	0	0
FAM218A	152756	broad.mit.edu	37	4	165878524	165878524	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:165878524C>G	ENST00000513876.2	+	1	425	c.350C>G	c.(349-351)tCa>tGa	p.S117*	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	117								p.S117*(1)									CACTCCAAGTCAGAAGGACCA	0.567000													5	100					0	0	0.021553	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:12887399C>T	ENST00000535591.1	-	3	653	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000													142	439					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56382256	56382256	+	Missense_Mutation	SNP	C	C	G	rs145998081		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:56382256C>G	ENST00000301295.6	+	7	2840	c.2418C>G	c.(2416-2418)aaC>aaG	p.N806K	NLRP4_ENST00000346986.5_Missense_Mutation_p.N750K|NLRP4_ENST00000587891.1_Missense_Mutation_p.N731K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	806							ATP binding	p.N806K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCGTAACAAGAGCGTGC	0.517000													4	123					0	0	0.009096	0	0
PEG3	5178	broad.mit.edu	37	19	57325423	57325423	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:57325423C>T	ENST00000326441.9	-	10	4750	c.4387G>A	c.(4387-4389)Gaa>Aaa	p.E1463K	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1337K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1339K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1463K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1463	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1463K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCTCTTTCTTCTGGGTCT	0.547000													6	218					0	0	0.029380	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128410	20128410	+	Missense_Mutation	SNP	C	C	T	rs137905034		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:20128410C>T	ENST00000334554.7	+	7	910	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P257S|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P165S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	257						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.P257S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGAGCCACCCCGGCTGCC	0.627000													12	58					0	0	0.024245	0	0
WDR52	55779	broad.mit.edu	37	3	113120482	113120482	+	Silent	SNP	G	G	A	rs143438550	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:113120482G>A	ENST00000393845.2	-	10	1341	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	WDR52_ENST00000295868.2_Silent_p.L425L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	425								p.L425L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCATAGAGAAGAGATTCACAT	0.363000													4	96					0	0	0.009096	0	0
MLLT4	4301	broad.mit.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:168349093T>C	ENST00000366806.2	+	29	3887	c.3745T>C	c.(3745-3747)Tgg>Cgg	p.W1249R	MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249R|MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256R|MLLT4_ENST00000447894.2_Missense_Mutation_p.W1249R|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248R|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249R|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458000			T	MLL	AL								4	89					0	0	0.009096	0	0
MYO18A	399687	broad.mit.edu	37	17	27413574	27413574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:27413574C>G	ENST00000527372.1	-	39	5914	c.5734G>C	c.(5734-5736)Gag>Cag	p.E1912Q	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1912Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1912Q|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1875Q|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1912					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E1912Q(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTAGCAGCCTCCAGGCTTTCT	0.557000													3	49					0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191834	5191834	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:5191834G>A	ENST00000274181.7	+	8	1382	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R415H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	415	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R415H(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTAAATATCGCAGCTGCACG	0.423000													10	305					0	0	0.008291	0	0
PLD2	5338	broad.mit.edu	37	17	4719995	4719995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:4719995C>G	ENST00000263088.6	+	15	1667	c.1536C>G	c.(1534-1536)agC>agG	p.S512R	PLD2_ENST00000572940.1_Missense_Mutation_p.S512R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	512	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S512R(4)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGGACTACAGCAATCTTATCA	0.607000													45	142					0	0	0.013114	0	0
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502000													43	128					2.46787e-29	2.71244e-29	0.014410	1	0
ZNF558	148156	broad.mit.edu	37	19	8922322	8922322	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:8922322G>A	ENST00000601372.1	-	10	1555	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ZNF558_ENST00000301475.1_Missense_Mutation_p.H282Y|ZNF558_ENST00000444186.2_Missense_Mutation_p.H211Y			Q96NG5	ZN558_HUMAN	zinc finger protein 558	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H282Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATGCTATTGTGCCCAGTGAGA	0.453000													65	221					0	0	0.014410	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:73163796G>A	ENST00000545377.1	+	19	2424	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G750R|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G437R|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G750R	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.G750R(4)									GGAGACTGTGGGACAGGTCCA	0.522000													15	35					0	0	0.033300	0	0
RTN2	6253	broad.mit.edu	37	19	45998365	45998365	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:45998365C>G	ENST00000245923.4	-	2	302	c.67G>C	c.(67-69)Gat>Cat	p.D23H	RTN2_ENST00000344680.4_Missense_Mutation_p.D23H|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	23						integral to endoplasmic reticulum membrane	signal transducer activity	p.D23H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTGTGGAATCAGGAGTTGAG	0.547000													6	171					0	0	0.021553	0	0
NMBR	4829	broad.mit.edu	37	6	142409491	142409491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:142409491G>C	ENST00000258042.1	-	1	445	c.305C>G	c.(304-306)tCg>tGg	p.S102W	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	102					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.S102W(1)|p.S102L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GAAGTAGCGCGAGGCGTCCAC	0.592000													4	75					0	0	0.009096	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159839	170159839	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:170159839G>A	ENST00000328939.4	+	6	1008	c.471G>A	c.(469-471)atG>atA	p.M157I	KCNIP1_ENST00000520740.1_Missense_Mutation_p.M129I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M157I|KCNIP1_ENST00000434108.1_Missense_Mutation_p.M182I|KCNIP1_ENST00000411494.1_Missense_Mutation_p.M168I|KCNIP1_ENST00000377360.4_Missense_Mutation_p.M166I	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	168	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTATGACATGATGGGGAAAT	0.488000													4	137					0	0	0.014758	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572387	101572387	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:101572387C>G	ENST00000326172.5	+	5	1132	c.1017C>G	c.(1015-1017)agC>agG	p.S339R	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S239R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	339	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAACCAAAGCTTAGTTTCCC	0.458000													6	196					0	0	0.021553	0	0
LEO1	123169	broad.mit.edu	37	15	52258273	52258273	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:52258273C>T	ENST00000299601.5	-	2	547	c.487G>A	c.(487-489)Gat>Aat	p.D163N	LEO1_ENST00000315141.5_Missense_Mutation_p.D163N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	163	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.D163N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCATCATCAGAATTTTGT	0.413000													14	431					0	0	0.020292	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462203	37462203	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:37462203G>A	ENST00000381792.2	-	19	2532	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	TMPRSS6_ENST00000346753.3_Silent_p.L785L|TMPRSS6_ENST00000406725.1_Silent_p.L776L|TMPRSS6_ENST00000406856.1_Silent_p.L798L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	785	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.L785L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCACAGCCCAGGCCCCAGCTG	0.632000													9	26					0	0	0.020292	0	0
POTEH	23784	broad.mit.edu	37	22	16267027	16267027	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr22:16267027G>C	ENST00000343518.6	-	9	1473	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474								p.A474A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTCAGCAGTGGCACCGTTAG	0.408000													13	572					0	0	0.016723	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	81					0	0	0.009096	0	0
MAML3	55534	broad.mit.edu	37	4	140641170	140641170	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:140641170C>G	ENST00000509479.2	-	5	3580	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G908G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATTCCAACCCCCTGCCCAG	0.557000													95	355					0	0	0.014410	0	0
TWSG1	57045	broad.mit.edu	37	18	9396396	9396396	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr18:9396396G>A	ENST00000262120.5	+	4	533	c.342G>A	c.(340-342)ttG>ttA	p.L114L	TWSG1_ENST00000581641.1_Silent_p.L114L	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	114										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						ATACTCAGTTGAATTGGAACA	0.448000													5	234					0	0	0.014758	0	0
PAQR9	344838	broad.mit.edu	37	3	142681704	142681704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:142681704C>T	ENST00000340634.3	-	1	474	c.475G>A	c.(475-477)Gcg>Acg	p.A159T		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity	p.A159T(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CTGATGGACGCGTAGTCCAGG	0.612000													3	16					0	0	0.021553	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685500	31685500	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:31685500G>A	ENST00000375483.3	+	11	1476	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	492						cytoplasm|extracellular region	lipid binding										TGATGCTGCAGAAGGACAAAG	0.582000													6	284					0	0	0.029380	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													3	43					0	0	0.004672	0	0
PSME2	5721	broad.mit.edu	37	14	24614335	24614335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24614335C>A	ENST00000216802.5	-	6	931	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSME2_ENST00000560410.1_Nonsense_Mutation_p.E87*|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGGACTTTCTCATTCCCAGGG	0.507000													7	335					0.00198382	0.0020686	0.029380	1	0
CDH12	1010	broad.mit.edu	37	5	22078683	22078683	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:22078683G>T	ENST00000382254.1	-	5	1189	c.103C>A	c.(103-105)Cca>Aca	p.P35T	CDH12_ENST00000504376.2_Missense_Mutation_p.P35T|CDH12_ENST00000522262.1_Missense_Mutation_p.P35T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	35					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTTCTCTTGGCTCTGTGGCT	0.458000										HNSCC(59;0.17)			10	375					0.00244969	0.00253274	0.020292	1	0
FILIP1	27145	broad.mit.edu	37	6	76063272	76063272	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr6:76063272C>T	ENST00000393004.2	-	4	833	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FILIP1_ENST00000370020.1_Silent_p.L105L|FILIP1_ENST00000237172.7_Silent_p.L204L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	204								p.L204L(2)		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						GCTCCTGCTCCAGCAGGTTGG	0.527000													86	313					0	0	0.014410	0	0
KIF22	3835	broad.mit.edu	37	16	29816619	29816619	+	Silent	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:29816619T>C	ENST00000561482.1	+	14	2419	c.1782T>C	c.(1780-1782)tgT>tgC	p.C594C	KIF22_ENST00000569382.2_Silent_p.C608C|KIF22_ENST00000160827.4_Silent_p.C662C|KIF22_ENST00000400751.5_Silent_p.C594C	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	662					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.C662C(2)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCAGCGCTGTGGCGCCTCCT	0.592000													59	250					0	0	0.014410	0	0
PRDM16	63976	broad.mit.edu	37	1	3319367	3319367	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:3319367T>C	ENST00000378398.3	+	7	774	c.692T>C	c.(691-693)tTc>tCc	p.F231S	PRDM16_ENST00000514189.1_Missense_Mutation_p.F231S|PRDM16_ENST00000511072.1_Missense_Mutation_p.F231S|PRDM16_ENST00000442529.2_Missense_Mutation_p.F230S|PRDM16_ENST00000441472.2_Missense_Mutation_p.F230S|PRDM16_ENST00000270722.5_Missense_Mutation_p.F230S|PRDM16_ENST00000378391.2_Missense_Mutation_p.F230S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	230					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.F230S(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGCCCACGTTCCGCTGTGAC	0.627000			T	EVI1	"""MDS, AML"""								21	73					0	0	0.016522	0	0
CPA3	1359	broad.mit.edu	37	3	148586705	148586705	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:148586705G>C	ENST00000296046.3	+	3	200	c.148G>C	c.(148-150)Gac>Cac	p.D50H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	50					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.D50H(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTGCAGCTTGACTTCTGGTA	0.428000													5	132					0	0	0.014758	0	0
USP9X	8239	broad.mit.edu	37	X	41073863	41073863	+	Silent	SNP	T	T	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:41073863T>A	ENST00000324545.7	+	34	5865	c.5232T>A	c.(5230-5232)atT>atA	p.I1744I	USP9X_ENST00000378308.2_Silent_p.I1744I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1744					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGTAGACATTAGAAATCACC	0.308000													4	97					0	0	0.014758	0	0
THAP6	152815	broad.mit.edu	37	4	76452395	76452395	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr4:76452395G>C	ENST00000311638.3	+	5	708	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.E214Q|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.E172Q|THAP6_ENST00000504190.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	214						microtubule cytoskeleton	DNA binding|metal ion binding	p.E214Q(1)		lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTGTTGTCAGGAGAGCATAGA	0.348000													6	201					0	0	0.003080	0	0
MCF2	4168	broad.mit.edu	37	X	138698557	138698557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:138698557C>A	ENST00000520602.1	-	12	1540	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MCF2_ENST00000370576.4_Missense_Mutation_p.A359S|MCF2_ENST00000536274.1_Missense_Mutation_p.A320S|MCF2_ENST00000519895.1_Missense_Mutation_p.A419S|MCF2_ENST00000370578.4_Missense_Mutation_p.A504S|MCF2_ENST00000414978.1_Missense_Mutation_p.A419S|MCF2_ENST00000370573.4_Missense_Mutation_p.A359S|MCF2_ENST00000338585.6_Missense_Mutation_p.A359S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A359S(2)|p.A419S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCTTTCTGAGCATCTTCTTTA	0.343000													27	141					4.87955e-14	5.26819e-14	0.027356	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057394	46057394	+	Silent	SNP	C	C	T	rs150164802		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:46057394C>T	ENST00000380095.1	+	1	122	c.60C>T	c.(58-60)gtC>gtT	p.V20V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament		p.V20V(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCGGGTAGTCGACTGCCCAG	0.672000													10	127					0	0	0.013726	0	0
CACTIN	58509	broad.mit.edu	37	19	3612168	3612168	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:3612168T>A	ENST00000429344.2	-	10	2082	c.2030A>T	c.(2029-2031)aAg>aTg	p.K677M	CACTIN_ENST00000221899.3_Missense_Mutation_p.K609M|CACTIN_ENST00000248420.5_Missense_Mutation_p.K677M|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.K609M(1)|p.K677M(1)									GATGTTGAACTTGTATCCCTG	0.572000													8	265					0	0	0.003080	0	0
KCND2	3751	broad.mit.edu	37	7	119914821	119914821	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:119914821G>C	ENST00000331113.4	+	1	1100	c.135G>C	c.(133-135)ctG>ctC	p.L45L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	45					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L45L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCATTGTGCTGAATGTGAGTG	0.602000													8	464					0	0	0.003080	0	0
MAF1	84232	broad.mit.edu	37	8	145160793	145160793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr8:145160793G>C	ENST00000534585.1	+	3	496	c.105G>C	c.(103-105)aaG>aaC	p.K35N	MAF1_ENST00000322428.5_Missense_Mutation_p.K35N|MAF1_ENST00000532522.1_Missense_Mutation_p.K35N			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	35					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.K35N(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTCATGTAAGATGGCAGGAG	0.562000													9	249					0	0	0.006214	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:142713407C>T	ENST00000369381.2	-	0	1198																											CAGTAAGAAACTCATTCTTAT	0.318000													16	26					0	0	0.006122	0	0
PAX1	5075	broad.mit.edu	37	20	21689285	21689285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr20:21689285G>T	ENST00000398485.2	+	3	1060	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	PAX1_ENST00000444366.2_Missense_Mutation_p.A312S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	336					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.A242S(2)|p.A336S(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCCACCCCCGCAGTGAATGG	0.602000													60	85					3.66258e-25	3.98959e-25	0.014410	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638177	234638177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:234638177G>T	ENST00000482026.1	+	1	424	c.405G>T	c.(403-405)gaG>gaT	p.E135D	UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019093.2	NP_061966.1												p.E135D(2)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACATAATGAGGCCCTGATCA	0.428000													101	326					1.70349e-48	1.88933e-48	0.014410	1	0
ESYT2	57488	broad.mit.edu	37	7	158552780	158552780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:158552780G>T	ENST00000251527.5	-	12	1501	c.1436C>A	c.(1435-1437)aCg>aAg	p.T479K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	507						integral to membrane|plasma membrane		p.T479K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGGCATTAACGTGAGCCACTC	0.458000													20	104					2.70639e-06	2.84638e-06	0.014323	1	0
NUP155	9631	broad.mit.edu	37	5	37303421	37303421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:37303421C>A	ENST00000231498.3	-	28	3461	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	NUP155_ENST00000513532.1_Missense_Mutation_p.E1022D|NUP155_ENST00000381843.2_Missense_Mutation_p.E1027D|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1086					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.E1086E(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTGTTCTTCTCGTAATACC	0.408000													5	175					0.0215528	0.0220961	0.021553	1	0
ABCA13	154664	broad.mit.edu	37	7	48312734	48312734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:48312734C>G	ENST00000435803.1	+	17	3495	c.3471C>G	c.(3469-3471)atC>atG	p.I1157M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1157					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGACTGAAATCTGGGAAACCA	0.363000													4	152					0	0	0.014758	0	0
CAPZA2	830	broad.mit.edu	37	7	116546335	116546335	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:116546335G>C	ENST00000361183.2	+	6	584	c.445G>C	c.(445-447)Gat>Cat	p.D149H	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	149					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	p.D149H(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CAAAAAAATAGATGGACAGCA	0.323000													5	100					0	0	0.029380	0	0
DMXL1	1657	broad.mit.edu	37	5	118482991	118482991	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr5:118482991G>A	ENST00000311085.8	+	17	2817	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E913K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	913								p.E913K(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCAGCCAGAAGAACATTATTC	0.393000													5	117					0	0	0.014758	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	40					0	0	0.021553	0	0
SAMD8	142891	broad.mit.edu	37	10	76910777	76910777	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr10:76910777G>C	ENST00000542569.1	+	2	594	c.491G>C	c.(490-492)gGa>gCa	p.G164A	SAMD8_ENST00000372690.3_Missense_Mutation_p.G227A|SAMD8_ENST00000372687.3_Missense_Mutation_p.G164A	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	164					sphingomyelin biosynthetic process	integral to membrane		p.G227A(1)|p.G164A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATAGTATTTGGATTTACATCT	0.358000													5	94					0	0	0.014758	0	0
NLRC5	84166	broad.mit.edu	37	16	57054780	57054780	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:57054780G>C	ENST00000436936.1	+	3	381	c.156G>C	c.(154-156)caG>caC	p.Q52H	NLRC5_ENST00000308149.7_Missense_Mutation_p.Q52H|NLRC5_ENST00000262510.6_Missense_Mutation_p.Q52H|NLRC5_ENST00000539144.1_Missense_Mutation_p.Q52H			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	52					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	p.Q52H(1)		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)				ACCCTGAACAGAGAGTCATCC	0.547000													4	99					0	0	0.014758	0	0
GRWD1	83743	broad.mit.edu	37	19	48949420	48949420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:48949420C>T	ENST00000253237.5	+	1	391	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	53						nucleolus		p.A53V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GACGAGGAGGCCTATGTGCTC	0.677000											OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	0.014758	0	0
ITGA2B	3674	broad.mit.edu	37	17	42453323	42453323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:42453323C>T	ENST00000262407.5	-	25	2510	c.2479G>A	c.(2479-2481)Ggt>Agt	p.G827S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G827S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	827					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G827S(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGTGAAGACCATTCACAGTC	0.622000											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	97					0	0	0.029380	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765853	171765853	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:171765853C>T	ENST00000311601.5	-	13	2426	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	752	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.Q752Q(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGTCTCTGCTGGGGAGCCT	0.602000													17	133					0	0	0.043863	0	0
ACBD5	91452	broad.mit.edu	37	10	27507108	27507108	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:27507108C>T	ENST00000396271.3	-	7	756	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375905.4_Silent_p.K175K|ACBD5_ENST00000375888.1_Silent_p.K219K|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Silent_p.K101K	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	219					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCATCATTTTCTTATCTTTTA	0.353000													4	180					0	0	0.009096	0	0
GPR45	11250	broad.mit.edu	37	2	105859036	105859036	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:105859036C>T	ENST00000258456.1	+	1	837	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	241						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCTGCGGCAGCTCACCAGGGC	0.632000													6	86					0	0	0.047766	0	0
GHR	2690	broad.mit.edu	37	5	42713567	42713567	+	Missense_Mutation	SNP	G	G	C	rs139810242		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:42713567G>C	ENST00000230882.4	+	8	1011	c.821G>C	c.(820-822)gGa>gCa	p.G274A	GHR_ENST00000357703.3_Missense_Mutation_p.G252A|GHR_ENST00000537449.1_Missense_Mutation_p.G87A	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	274					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.G274E(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTATCTTTGGAATATTTGGG	0.328000													3	190					0	0	0.014758	0	0
RNF44	22838	broad.mit.edu	37	5	175959120	175959120	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:175959120C>T	ENST00000274811.4	-	3	706	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	RNF44_ENST00000537487.1_5'UTR	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	61	Pro-rich.						zinc ion binding	p.R61Q(2)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGAGGTCGGGACGGCGG	0.726000													7	27					0	0	0.047766	0	0
CEP97	79598	broad.mit.edu	37	3	101476618	101476618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:101476618G>A	ENST00000341893.3	+	9	1920	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	CEP97_ENST00000327230.4_Missense_Mutation_p.D390N|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	390	CEP110 binding.					centrosome|nucleus	protein binding	p.D390N(4)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CATACAGACGGATGAGGACAA	0.418000													16	62					0	0	0.038395	0	0
ZNF229	7772	broad.mit.edu	37	19	44934535	44934535	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:44934535G>C	ENST00000291187.4	-	6	725	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q141E	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	141					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)				TCCCACCCTTGATGGGGAGCA	0.483000													3	114					0	0	0.115264	0	0
GPR183	1880	broad.mit.edu	37	13	99947512	99947512	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr13:99947512C>G	ENST00000376414.4	-	2	971	c.888G>C	c.(886-888)ctG>ctC	p.L296L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	296					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGAAGTTCATCAGGCATACTG	0.378000													3	115					0	0	0.115264	0	0
UBR4	23352	broad.mit.edu	37	1	19491762	19491762	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:19491762G>A	ENST00000375267.2	-	31	4296	c.4293C>T	c.(4291-4293)ttC>ttT	p.F1431F	UBR4_ENST00000375217.2_Silent_p.F1431F|UBR4_ENST00000375254.3_Silent_p.F1431F|UBR4_ENST00000375226.2_Silent_p.F1431F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1431					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAGTTTGGTGAAGAATTTCA	0.428000													5	282					0	0	0.014758	0	0
PKP2	5318	broad.mit.edu	37	12	32955458	32955458	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:32955458C>T	ENST00000340811.4	-	10	2154	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	PKP2_ENST00000070846.6_Silent_p.Q726Q	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	726					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACTTTCCTTCTGGACAACTG	0.453000													7	177					0	0	0.038147	0	0
NETO1	81832	broad.mit.edu	37	18	70416305	70416305	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:70416305A>G	ENST00000327305.6	-	10	2217	c.1560T>C	c.(1558-1560)tcT>tcC	p.S520S	NETO1_ENST00000583169.1_Silent_p.S520S|NETO1_ENST00000299430.2_Silent_p.S519S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	520					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S520S(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTTGCTTAGAGACCCAATGA	0.343000													21	55					0	0	0.091800	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	66					0	0	0.038147	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000													6	318					0	0	0.021553	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	69					0	0	0.014758	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631261	99631261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:99631261G>A	ENST00000324306.6	+	6	1367	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R342K|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R165K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R378K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGTCTCACAGATGTGATGAA	0.473000													4	139					0	0	0.009096	0	0
INTS4	92105	broad.mit.edu	37	11	77618831	77618831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr11:77618831G>A	ENST00000534064.1	-	16	1982	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Nonsense_Mutation_p.Q25*	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	650					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AATTCAGATTGAAGTTCTCCA	0.408000													5	78					0	0	0.038147	0	0
SBF1	6305	broad.mit.edu	37	22	50885835	50885835	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:50885835G>A	ENST00000380817.2	-	40	5682	c.5499C>T	c.(5497-5499)atC>atT	p.I1833I	SBF1_ENST00000348911.6_Silent_p.I1808I|SBF1_ENST00000390679.3_Silent_p.I1807I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1807	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCAAGTCGATGACACCCT	0.652000													5	115					0	0	0.038147	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416986	107416986	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:107416986A>G	ENST00000340010.5	-	15	1772	c.1588T>C	c.(1588-1590)Tat>Cat	p.Y530H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Y495H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	530	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.Y530H(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTGGCTCATACATCTGTAAG	0.378000													17	43					0	0	0.033300	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716167	48716167	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:48716167C>G	ENST00000294129.2	-	12	1914	c.1795G>C	c.(1795-1797)Gac>Cac	p.D599H	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D599H|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D592H	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	599	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCACAGGGTCATCTAGGAGG	0.592000													5	204					0	0	0.014758	0	0
PREPL	9581	broad.mit.edu	37	2	44571027	44571027	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:44571027A>G	ENST00000541738.1	-	4	592	c.206T>C	c.(205-207)aTt>aCt	p.I69T	PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.I158T|PREPL_ENST00000378511.3_Missense_Mutation_p.I158T|PREPL_ENST00000378520.3_Missense_Mutation_p.I158T|PREPL_ENST00000410081.1_Missense_Mutation_p.I158T|PREPL_ENST00000409936.1_Missense_Mutation_p.I158T|PREPL_ENST00000409957.1_Missense_Mutation_p.I69T|PREPL_ENST00000409411.1_Missense_Mutation_p.I69T|PREPL_ENST00000409272.1_Missense_Mutation_p.I158T	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	158					proteolysis	cytosol	serine-type endopeptidase activity	p.I158T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATACAATCAATGAAGGGCTG	0.343000													33	51					0	0	0.059317	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983139	140983139	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:140983139G>C	ENST00000298296.1	+	5	994	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	MAGEC3_ENST00000448920.1_Missense_Mutation_p.E84Q|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	332	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGCGAGGAGTCTGGACT	0.577000													6	352					0	0	0.021553	0	0
TMEM251	26175	broad.mit.edu	37	14	93651788	93651788	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:93651788C>T	ENST00000415050.2	+	1	431	c.56C>T	c.(55-57)tCt>tTt	p.S19F	TMEM251_ENST00000283534.4_Intron|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		CTGAGTGACTCTTTAACGCTT	0.498000													5	241					0	0	0.021553	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840506	840506	+	Silent	SNP	C	C	T	rs7701283	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:840506C>T	ENST00000511539.1	-	2	353	c.249G>A	c.(247-249)acG>acA	p.T83T	ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	348						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGGCCCCAGGCGTGGGGGGCT	0.577000													5	31					0	0	0.014758	0	0
REC8	9985	broad.mit.edu	37	14	24648000	24648000	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24648000G>A	ENST00000311457.3	+	15	1677	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	REC8_ENST00000559919.1_Missense_Mutation_p.E360K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	361	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCTACCCCCTGAACTACTGGG	0.582000													13	779					0	0	0.119110	0	0
HARS	3035	broad.mit.edu	37	5	140056669	140056669	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:140056669C>T	ENST00000504366.1	-	8	2468	c.649G>A	c.(649-651)Gat>Aat	p.D217N	HARS_ENST00000307633.3_Missense_Mutation_p.D226N|HARS_ENST00000448240.1_Missense_Mutation_p.D91N|HARS_ENST00000431330.2_Missense_Mutation_p.D172N|HARS_ENST00000504156.1_Missense_Mutation_p.D286N|HARS_ENST00000457527.2_Missense_Mutation_p.D266N|HARS_ENST00000438307.2_Missense_Mutation_p.D246N|HARS_ENST00000415192.2_Missense_Mutation_p.D212N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	286					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGTTTAGGATCCTGGAGCAGC	0.507000													8	526					0	0	0.047766	0	0
ITSN1	6453	broad.mit.edu	37	21	35260596	35260596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:35260596G>A	ENST00000381318.3	+	40	5446	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	ITSN1_ENST00000399367.3_Missense_Mutation_p.E1715K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1659K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1720K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1720					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	p.E1720K(2)		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						GTTGTTTGATGAGCCGTAGGC	0.547000													17	32					0	0	0.033300	0	0
FRYL	285527	broad.mit.edu	37	4	48636353	48636353	+	Silent	SNP	A	A	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:48636353A>C	ENST00000537810.1	-	4	679	c.75T>G	c.(73-75)gcT>gcG	p.A25A	FRYL_ENST00000507711.1_Silent_p.A25A|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.A25A|FRYL_ENST00000358350.4_Silent_p.A25A			O94915	FRYL_HUMAN	FRY-like	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A25A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTTGAACAGCAAATTCTG	0.368000													18	58					0	0	0.033300	0	0
WDR91	29062	broad.mit.edu	37	7	134896244	134896244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:134896244G>A	ENST00000354475.4	-	1	42	c.11C>T	c.(10-12)gCc>gTc	p.A4V	WDR91_ENST00000344400.5_Missense_Mutation_p.A4V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	4								p.A4V(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCGCTCCACGGCCTCCGCCAT	0.706000													22	49					0	0	0.125774	0	0
COL14A1	7373	broad.mit.edu	37	8	121313043	121313043	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr8:121313043C>G	ENST00000297848.3	+	36	4657	c.4387C>G	c.(4387-4389)Cca>Gca	p.P1463A	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1463A|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1368A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1463	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1463A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTGGGACCAGCGGGCCC	0.418000													6	213					0	0	0.047766	0	0
MYH7B	57644	broad.mit.edu	37	20	33575404	33575404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:33575404C>A	ENST00000262873.7	+	15	1410	c.1318C>A	c.(1318-1320)Ctc>Atc	p.L440I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	398	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.L440I(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGGGACCTCCTCAAAGG	0.637000													142	239					3.10949e-78	3.61203e-78	0.139131	1	0
ANKRD12	23253	broad.mit.edu	37	18	9275652	9275652	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:9275652C>T	ENST00000383440.2	+	10	6082	c.5825C>T	c.(5824-5826)cCa>cTa	p.P1942L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1942L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1965L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1965						nucleus		p.P1965L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACAATGTACCATTGGACTCT	0.358000													21	77					0	0	0.049695	0	0
C22orf29	79680	broad.mit.edu	37	22	19839364	19839364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:19839364C>A	ENST00000405640.1	-	2	1089	c.421G>T	c.(421-423)Gag>Tag	p.E141*	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.E141*|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.E141*|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	141								p.E141*(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTGAGGATCTCGCAGACACGG	0.612000													7	253					3.09899e-07	3.39413e-07	0.047766	1	0
TBC1D4	9882	broad.mit.edu	37	13	75915719	75915719	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr13:75915719G>C	ENST00000377636.3	-	6	1759	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L471L|TBC1D4_ENST00000431480.2_Silent_p.L471L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	471						cytoplasm	Rab GTPase activator activity	p.L471L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGGTGGGTAGAGACCTAAGG	0.453000													3	75					0	0	0.009096	0	0
MKI67	4288	broad.mit.edu	37	10	129903821	129903821	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:129903821C>T	ENST00000368654.3	-	13	6658	c.6283G>A	c.(6283-6285)Gat>Aat	p.D2095N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1735N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2095	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTTTGTCATCAGTTGTTGAT	0.498000													14	550					0	0	0.105934	0	0
ZNF462	58499	broad.mit.edu	37	9	109691539	109691539	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr9:109691539C>T	ENST00000277225.5	+	3	5635	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	ZNF462_ENST00000441147.2_Silent_p.I627I|ZNF462_ENST00000457913.1_Silent_p.I1782I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1782					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAAGGGCATCGTGTCCCATT	0.572000													7	222					0	0	0.029380	0	0
LARP4B	23185	broad.mit.edu	37	10	909728	909728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:909728G>T	ENST00000316157.3	-	4	425	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	129							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAGGGACCCAGAGCGAGAGCG	0.507000													4	110					2.56e-06	2.77736e-06	0.009096	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	41					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103491388	103491388	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:103491388G>C	ENST00000358392.2	-	6	1218	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q301E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTGATGCTTGATAACTTTTC	0.363000													3	89					0	0	0.115264	0	0
CDCA7	83879	broad.mit.edu	37	2	174224196	174224196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:174224196G>C	ENST00000306721.3	+	3	464	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	CDCA7_ENST00000347703.3_Intron|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.E77Q	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	43					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGGTTTCTCAGAGAGTGAGAT	0.383000													3	142					0	0	0.115264	0	0
ZNF2	7549	broad.mit.edu	37	2	95847140	95847140	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:95847140C>G	ENST00000398107.2	+	4	963	c.441C>G	c.(439-441)ctC>ctG	p.L147L	ZNF2_ENST00000340539.5_Silent_p.L189L|ZNF2_ENST00000295210.6_Silent_p.L151L|ZNF2_ENST00000453539.2_Silent_p.L202L|ZNF2_ENST00000425369.1_Silent_p.L109L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACTCATCCCTCACCCGCCATC	0.572000													4	122					0	0	0.009096	0	0
LRIT3	345193	broad.mit.edu	37	4	110790984	110790984	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:110790984G>A	ENST00000327908.3	+	4	1294	c.530G>A	c.(529-531)aGa>aAa	p.R177K	LRIT3_ENST00000379920.3_Missense_Mutation_p.R315K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R177K|LRIT3_ENST00000594814.1_Missense_Mutation_p.R360K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	315	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACTTCTGAAAGAACTGGAGAT	0.478000													6	177					0	0	0.047766	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:140581561C>T	ENST00000354757.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	PCDHB11_ENST00000536699.1_Silent_p.D373D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D738D(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612000													9	279					0	0	0.047766	0	0
COL6A3	1293	broad.mit.edu	37	2	238277314	238277314	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:238277314C>G	ENST00000295550.4	-	10	5244	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q	COL6A3_ENST00000347401.3_Missense_Mutation_p.E1397Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1398Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E991Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1392Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1392Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1598	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCTGAACTCTCGCACTGTG	0.547000													6	294					0	0	0.021553	0	0
GLG1	2734	broad.mit.edu	37	16	74496473	74496473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:74496473G>T	ENST00000422840.2	-	21	2846	c.2847C>A	c.(2845-2847)ttC>ttA	p.F949L	GLG1_ENST00000205061.5_Missense_Mutation_p.F949L|GLG1_ENST00000447066.2_Missense_Mutation_p.F938L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	949						Golgi membrane|integral to membrane	receptor binding	p.F949L(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TACCGTGACAGAATTTAGGAA	0.433000													29	77					4.4194e-11	4.98266e-11	0.054565	1	0
AHI1	54806	broad.mit.edu	37	6	135787398	135787398	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:135787398C>G	ENST00000367800.4	-	5	519	c.303G>C	c.(301-303)ttG>ttC	p.L101F	AHI1_ENST00000327035.6_Missense_Mutation_p.L101F|AHI1_ENST00000457866.2_Missense_Mutation_p.L101F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	101						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTGTTCCTCAATTTGTTTT	0.398000													6	155					0	0	0.021553	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099641	142099641	+	RNA	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:142099641T>C	ENST00000390359.3	-	0	199																											GGCCTGTTGGTACCAAAAAAG	0.512000													12	78					0	0	0.105934	0	0
CELSR3	1951	broad.mit.edu	37	3	48682238	48682238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:48682238C>A	ENST00000544264.1	-	27	8291	c.8011G>T	c.(8011-8013)Gag>Tag	p.E2671*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.E2666*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2666					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATAGCCCTCAGGGTCCAGG	0.582000													5	67					0.000602214	0.000635364	0.014758	1	0
AATF	26574	broad.mit.edu	37	17	35344013	35344013	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:35344013A>G	ENST00000225402.5	+	5	1181	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	310	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.T310T(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TAGATGGGACAAAGCCCAATG	0.403000													20	81					0	0	0.055883	0	0
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483000													51	172					0	0	0.139131	0	0
RYR1	6261	broad.mit.edu	37	19	39001159	39001159	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:39001159G>A	ENST00000355481.4	+	59	9085	c.8954G>A	c.(8953-8955)cGa>cAa	p.R2985Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R2985Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2985Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2985					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2985L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAGTGGGCGAGTGGAAAAG	0.562000													4	129					0	0	0.009096	0	0
CABLES2	81928	broad.mit.edu	37	20	60967531	60967531	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:60967531C>T	ENST00000279101.5	-	8	1013	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	335					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGAGGGCTTCACGTATTCTA	0.557000													6	207					0	0	0.029380	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126786	40126786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:40126786G>A	ENST00000235628.1	-	5	705	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	236					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCTTCTCATGCTCGAAGAAT	0.632000													6	283					0	0	0.021553	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535874	72535874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr11:72535874C>T	ENST00000321297.5	+	9	1121	c.983C>T	c.(982-984)gCt>gTt	p.A328V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	328					autophagy|protein transport	cytoplasm	protein binding	p.A328V(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCTACCCGGGCTCAGGATGTG	0.612000													9	46					0	0	0.058154	0	0
CLIP4	79745	broad.mit.edu	37	2	29356672	29356672	+	Silent	SNP	G	G	A	rs150045383		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:29356672G>A	ENST00000320081.5	+	5	774	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_ENST00000401605.1_Silent_p.S173S|CLIP4_ENST00000401617.2_Silent_p.S66S|CLIP4_ENST00000404424.1_Silent_p.S173S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173								p.S173S(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328000													3	55					0	0	0.009096	0	0
CARD6	84674	broad.mit.edu	37	5	40853274	40853274	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:40853274G>C	ENST00000254691.5	+	3	2039	c.1840G>C	c.(1840-1842)Gat>Cat	p.D614H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	614					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGAGAGGGGAGATGCTGGGGA	0.502000													9	344					0	0	0.047766	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:12887399C>T	ENST00000535591.1	-	3	653	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000													139	410					0	0	0.139131	0	0
POMGNT1	55624	broad.mit.edu	37	1	46663386	46663386	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:46663386C>T	ENST00000396420.3	-	2	744	c.108G>A	c.(106-108)cgG>cgA	p.R36R	POMGNT1_ENST00000371992.1_Silent_p.R36R|POMGNT1_ENST00000371984.3_Silent_p.R36R|POMGNT1_ENST00000371986.3_Silent_p.R36R			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	36					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GACAGAATCTCCGCAGGGCCC	0.592000													4	161					0	0	0.009096	0	0
IL2RG	3561	broad.mit.edu	37	X	70330436	70330436	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:70330436G>A	ENST00000374202.2	-	3	463	c.372C>T	c.(370-372)ctC>ctT	p.L124L	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	124					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATGTTTGGTAGAGGTGGATCT	0.448000									Severe Combined Immunodeficiency, X-linked				6	230					0	0	0.029380	0	0
MLLT4	4301	broad.mit.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:168349093T>C	ENST00000366806.2	+	29	3887	c.3745T>C	c.(3745-3747)Tgg>Cgg	p.W1249R	MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256R|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248R|MLLT4_ENST00000447894.2_Missense_Mutation_p.W1249R|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249R|MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249R|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458000			T	MLL	AL								4	89					0	0	0.014758	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883006	43883006	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:43883006G>A	ENST00000443950.2	-	3	813	c.327C>T	c.(325-327)aaC>aaT	p.N109N	HNRNPF_ENST00000544000.1_Silent_p.N109N|HNRNPF_ENST00000356053.3_Silent_p.N109N|HNRNPF_ENST00000357065.4_Silent_p.N109N|HNRNPF_ENST00000337970.3_Silent_p.N109N	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	109					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CGAAGCCATCGTTGGCGCTGT	0.512000													4	115					0	0	0.009096	0	0
POTEH	23784	broad.mit.edu	37	22	16267027	16267027	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:16267027G>C	ENST00000343518.6	-	9	1473	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474								p.A474A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTCAGCAGTGGCACCGTTAG	0.408000													5	249					0	0	0.014758	0	0
PLD2	5338	broad.mit.edu	37	17	4719995	4719995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:4719995C>G	ENST00000263088.6	+	15	1667	c.1536C>G	c.(1534-1536)agC>agG	p.S512R	PLD2_ENST00000572940.1_Missense_Mutation_p.S512R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	512	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S512R(4)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGGACTACAGCAATCTTATCA	0.607000													51	184					0	0	0.139131	0	0
PACS2	23241	broad.mit.edu	37	14	105859567	105859567	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:105859567C>G	ENST00000447393.1	+	23	2633	c.2458C>G	c.(2458-2460)Ctg>Gtg	p.L820V	PACS2_ENST00000430725.2_Missense_Mutation_p.L741V|PACS2_ENST00000325438.8_Missense_Mutation_p.L816V|PACS2_ENST00000551743.1_Missense_Mutation_p.L330V|PACS2_ENST00000551801.1_Missense_Mutation_p.L17V|PACS2_ENST00000547217.1_Missense_Mutation_p.L786V|PACS2_ENST00000458164.2_Missense_Mutation_p.L831V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	816					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGATGTTTCTGCCCAAGAA	0.612000													3	163					0	0	0.009096	0	0
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502000													27	90					1.80694e-10	2.01746e-10	0.144211	1	0
ZNF558	148156	broad.mit.edu	37	19	8922322	8922322	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:8922322G>A	ENST00000601372.1	-	10	1555	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ZNF558_ENST00000444186.2_Missense_Mutation_p.H211Y|ZNF558_ENST00000301475.1_Missense_Mutation_p.H282Y			Q96NG5	ZN558_HUMAN	zinc finger protein 558	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H282Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATGCTATTGTGCCCAGTGAGA	0.453000													17	88					0	0	0.049695	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:73163796G>A	ENST00000545377.1	+	19	2424	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G437R|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G750R|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G750R	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.G750R(4)									GGAGACTGTGGGACAGGTCCA	0.522000													12	21					0	0	0.080935	0	0
RTN2	6253	broad.mit.edu	37	19	45998365	45998365	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:45998365C>G	ENST00000245923.4	-	2	302	c.67G>C	c.(67-69)Gat>Cat	p.D23H	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.D23H|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	23						integral to endoplasmic reticulum membrane	signal transducer activity	p.D23H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTGTGGAATCAGGAGTTGAG	0.547000													13	195					0	0	0.105934	0	0
SKIL	6498	broad.mit.edu	37	3	170079039	170079039	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:170079039C>G	ENST00000458537.3	+	1	1629	c.920C>G	c.(919-921)tCt>tGt	p.S307C	SKIL_ENST00000426052.2_Missense_Mutation_p.S287C|SKIL_ENST00000413427.2_Missense_Mutation_p.S307C|SKIL_ENST00000259119.4_Missense_Mutation_p.S307C	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	307					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTGATGCATTCTCACAGATCA	0.433000													5	141					0	0	0.021553	0	0
GALT	2592	broad.mit.edu	37	9	34648807	34648807	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr9:34648807T>G	ENST00000378842.3	+	8	778	c.736T>G	c.(736-738)Tgg>Ggg	p.W246G	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.W137G	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	246					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGTCCCCTTCTGGGCAACATG	0.572000									Galactosemia				6	194					0	0	0.038147	0	0
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr9:6592946C>G	ENST00000321612.6	-	10	1456	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507000													3	95					0	0	0.115264	0	0
LEO1	123169	broad.mit.edu	37	15	52258273	52258273	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:52258273C>T	ENST00000299601.5	-	2	547	c.487G>A	c.(487-489)Gat>Aat	p.D163N	LEO1_ENST00000315141.5_Missense_Mutation_p.D163N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	163	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.D163N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCATCATCAGAATTTTGT	0.413000													8	321					0	0	0.047766	0	0
MAML3	55534	broad.mit.edu	37	4	140641170	140641170	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:140641170C>G	ENST00000509479.2	-	5	3580	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G908G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATTCCAACCCCCTGCCCAG	0.557000													98	336					0	0	0.139131	0	0
KLHL28	54813	broad.mit.edu	37	14	45403577	45403577	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:45403577C>G	ENST00000396128.4	-	3	1203	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H	KLHL28_ENST00000355081.2_Missense_Mutation_p.D376H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	362										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATTTGTATCAGGATTCCAG	0.388000													3	75					0	0	0.115264	0	0
ABCA4	24	broad.mit.edu	37	1	94546205	94546205	+	Missense_Mutation	SNP	C	C	G	rs61753055		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:94546205C>G	ENST00000370225.3	-	8	1014	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.E310Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	310					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAAAGGTCTCTGGACCACCA	0.537000													4	191					0	0	0.009096	0	0
PAQR9	344838	broad.mit.edu	37	3	142681704	142681704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:142681704C>T	ENST00000340634.3	-	1	474	c.475G>A	c.(475-477)Gcg>Acg	p.A159T		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity	p.A159T(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CTGATGGACGCGTAGTCCAGG	0.612000													7	24					0	0	0.080935	0	0
TCFL5	10732	broad.mit.edu	37	20	61488962	61488962	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:61488962C>G	ENST00000335351.3	-	4	1115	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	TCFL5_ENST00000217162.5_Missense_Mutation_p.K293N	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	341					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.K341N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCGATTCCTCTTCAGTGCTT	0.438000													5	149					0	0	0.021553	0	0
PSME2	5721	broad.mit.edu	37	14	24614335	24614335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24614335C>A	ENST00000216802.5	-	6	931	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Nonsense_Mutation_p.E87*	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGGACTTTCTCATTCCCAGGG	0.507000													6	229					3.59834e-05	3.86737e-05	0.021553	1	0
PWP2	5822	broad.mit.edu	37	21	45540840	45540840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:45540840C>T	ENST00000291576.7	+	13	1620	c.1493C>T	c.(1492-1494)tCt>tTt	p.S498F		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	498						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGTTTTGTCTGGACACGAA	0.607000													4	128					0	0	0.009096	0	0
LRIT3	345193	broad.mit.edu	37	4	110790932	110790932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:110790932G>T	ENST00000327908.3	+	4	1242	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	LRIT3_ENST00000379920.3_Missense_Mutation_p.V298L|LRIT3_ENST00000409621.2_Missense_Mutation_p.V160L|LRIT3_ENST00000594814.1_Missense_Mutation_p.V343L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	298	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTGGTTACTGTGACAGTGCT	0.478000													6	103					0.00198382	0.00207399	0.029380	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37947308	37947308	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:37947308G>A	ENST00000373087.6	+	4	806	c.690G>A	c.(688-690)gtG>gtA	p.V230V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	230					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATTCATTGTGAAGCTGGCCT	0.577000													7	199					0	0	0.029380	0	0
OPHN1	4983	broad.mit.edu	37	X	67430108	67430108	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:67430108G>A	ENST00000355520.5	-	9	1360	c.719C>T	c.(718-720)tCc>tTc	p.S240F	OPHN1_ENST00000540071.1_Missense_Mutation_p.S240F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	240					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S240F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCGGGTACTGGAGAAATGATT	0.378000													13	42					0	0	0.105934	0	0
FILIP1	27145	broad.mit.edu	37	6	76063272	76063272	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:76063272C>T	ENST00000393004.2	-	4	833	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FILIP1_ENST00000370020.1_Silent_p.L105L|FILIP1_ENST00000237172.7_Silent_p.L204L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	204								p.L204L(2)		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						GCTCCTGCTCCAGCAGGTTGG	0.527000													57	239					0	0	0.139131	0	0
PFKM	5213	broad.mit.edu	37	12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:48536575G>A	ENST00000340802.6	+	20	2101	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	555					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488000													4	171					0	0	0.014758	0	0
KIF22	3835	broad.mit.edu	37	16	29816619	29816619	+	Silent	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:29816619T>C	ENST00000561482.1	+	14	2419	c.1782T>C	c.(1780-1782)tgT>tgC	p.C594C	KIF22_ENST00000160827.4_Silent_p.C662C|KIF22_ENST00000569382.2_Silent_p.C608C|KIF22_ENST00000400751.5_Silent_p.C594C	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	662					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.C662C(2)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCAGCGCTGTGGCGCCTCCT	0.592000													55	287					0	0	0.139131	0	0
PRDM16	63976	broad.mit.edu	37	1	3319367	3319367	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:3319367T>C	ENST00000378398.3	+	7	774	c.692T>C	c.(691-693)tTc>tCc	p.F231S	PRDM16_ENST00000378391.2_Missense_Mutation_p.F230S|PRDM16_ENST00000442529.2_Missense_Mutation_p.F230S|PRDM16_ENST00000441472.2_Missense_Mutation_p.F230S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.F231S|PRDM16_ENST00000270722.5_Missense_Mutation_p.F230S|PRDM16_ENST00000511072.1_Missense_Mutation_p.F231S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	230					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.F230S(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGCCCACGTTCCGCTGTGAC	0.627000			T	EVI1	"""MDS, AML"""								24	90					0	0	0.091800	0	0
CPA3	1359	broad.mit.edu	37	3	148586705	148586705	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:148586705G>C	ENST00000296046.3	+	3	200	c.148G>C	c.(148-150)Gac>Cac	p.D50H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	50					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.D50H(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTGCAGCTTGACTTCTGGTA	0.428000													5	96					0	0	0.021553	0	0
GTSE1	51512	broad.mit.edu	37	22	46712182	46712182	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:46712182C>T	ENST00000454366.1	+	7	1517	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	416					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ACTCCAGTTGCGCTTGGTCAG	0.532000													7	121					0	0	0.029380	0	0
ADCY9	115	broad.mit.edu	37	16	4042323	4042323	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:4042323G>A	ENST00000294016.3	-	5	2569	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	ADCY9_ENST00000571889.1_Intron	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	677					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGGAGGGCTGAGGAGCCCGT	0.592000													5	95					0	0	0.014758	0	0
MCF2	4168	broad.mit.edu	37	X	138698557	138698557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:138698557C>A	ENST00000520602.1	-	12	1540	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MCF2_ENST00000519895.1_Missense_Mutation_p.A419S|MCF2_ENST00000414978.1_Missense_Mutation_p.A419S|MCF2_ENST00000370578.4_Missense_Mutation_p.A504S|MCF2_ENST00000370576.4_Missense_Mutation_p.A359S|MCF2_ENST00000370573.4_Missense_Mutation_p.A359S|MCF2_ENST00000338585.6_Missense_Mutation_p.A359S|MCF2_ENST00000536274.1_Missense_Mutation_p.A320S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A359S(2)|p.A419S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCTTTCTGAGCATCTTCTTTA	0.343000													3	37					6.4e-05	6.81481e-05	0.115264	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057394	46057394	+	Silent	SNP	C	C	T	rs150164802		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:46057394C>T	ENST00000380095.1	+	1	122	c.60C>T	c.(58-60)gtC>gtT	p.V20V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament		p.V20V(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCGGGTAGTCGACTGCCCAG	0.672000													13	161					0	0	0.134883	0	0
ZNF831	128611	broad.mit.edu	37	20	57768653	57768653	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:57768653C>T	ENST00000371030.2	+	1	2579	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	860						intracellular	nucleic acid binding|zinc ion binding	p.A860V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCAGGATGCCGATCCCGGG	0.652000													4	130					0	0	0.014758	0	0
FGF7	2252	broad.mit.edu	37	15	49776611	49776611	+	Silent	SNP	T	T	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAATGTTTGTTGCCTTAAATC	0.358000													2	7					0	0	0.115264	0	0
NLRC4	58484	broad.mit.edu	37	2	32476318	32476318	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:32476318G>A	ENST00000404025.2	-	5	1103	c.615C>T	c.(613-615)ctC>ctT	p.L205L	NLRC4_ENST00000360906.5_Silent_p.L205L|NLRC4_ENST00000402280.1_Silent_p.L205L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	205	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGCCCTGCTGAGACGGAGGA	0.532000													4	123					0	0	0.014758	0	0
PAX1	5075	broad.mit.edu	37	20	21689285	21689285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:21689285G>T	ENST00000398485.2	+	3	1060	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A312S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	336					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.A242S(2)|p.A336S(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCCACCCCCGCAGTGAATGG	0.602000													48	80					3.13296e-38	3.56723e-38	0.139131	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638177	234638177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:234638177G>T	ENST00000482026.1	+	1	424	c.405G>T	c.(403-405)gaG>gaT	p.E135D	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1												p.E135D(2)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACATAATGAGGCCCTGATCA	0.428000													93	299					3.07327e-39	3.53426e-39	0.139131	1	0
ESYT2	57488	broad.mit.edu	37	7	158552780	158552780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:158552780G>T	ENST00000251527.5	-	12	1501	c.1436C>A	c.(1435-1437)aCg>aAg	p.T479K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	507						integral to membrane|plasma membrane		p.T479K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGGCATTAACGTGAGCCACTC	0.458000													15	64					1.15088e-07	1.2726e-07	0.146539	1	0
FAM208B	54906	broad.mit.edu	37	10	5798640	5798640	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:5798640G>A	ENST00000328090.5	+	16	7296	c.6671G>A	c.(6670-6672)aGa>aAa	p.R2224K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2224																	GCTTTCCACAGAGAGAATGAT	0.373000													4	103					0	0	0.009096	0	0
TCFL5	10732	broad.mit.edu	37	20	61488847	61488847	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:61488847C>T	ENST00000335351.3	-	4	1230	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E332K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	380			E -> D (in dbSNP:rs34304654).		cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGTGAGGACTCCGAGGACTGC	0.572000													9	208					0	0	0.058154	0	0
IFT140	9742	broad.mit.edu	37	16	1616277	1616277	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:1616277C>G	ENST00000426508.2	-	16	2149	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	596										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATTTTGGAATCAGGGCTGTTG	0.507000													5	245					0	0	0.014758	0	0
CAPN13	92291	broad.mit.edu	37	2	30955354	30955354	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:30955354A>C	ENST00000295055.8	-	20	2053	c.1877T>G	c.(1876-1878)gTc>gGc	p.V626G	CAPN13_ENST00000534090.2_Missense_Mutation_p.V626G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	626					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.V626G(1)		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)					GGGGAAGCTGACCCTGCCGAC	0.597000													4	8					0	0	0.146539	0	0
MYH7B	57644	broad.mit.edu	37	20	33575404	33575404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:33575404C>A	ENST00000262873.7	+	15	1410	c.1318C>A	c.(1318-1320)Ctc>Atc	p.L440I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	398	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.L440I(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGGGACCTCCTCAAAGG	0.637000													121	194					3.68091e-61	4.12398e-61	0.014410	1	0
ITSN1	6453	broad.mit.edu	37	21	35260596	35260596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:35260596G>A	ENST00000381318.3	+	40	5446	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1715K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1720K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1659K|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1720					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	p.E1720K(2)		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						GTTGTTTGATGAGCCGTAGGC	0.547000													12	31					0	0	0.010729	0	0
GRWD1	83743	broad.mit.edu	37	19	48949420	48949420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:48949420C>T	ENST00000253237.5	+	1	391	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	53						nucleolus		p.A53V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GACGAGGAGGCCTATGTGCTC	0.677000											OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.009096	0	0
ITGA2B	3674	broad.mit.edu	37	17	42453323	42453323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:42453323C>T	ENST00000262407.5	-	25	2510	c.2479G>A	c.(2479-2481)Ggt>Agt	p.G827S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G827S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	827					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G827S(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGTGAAGACCATTCACAGTC	0.622000											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	67					0	0	0.009096	0	0
PHKA2	5256	broad.mit.edu	37	X	18926043	18926043	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:18926043C>T	ENST00000379942.4	-	22	3157	c.2492G>A	c.(2491-2493)aGg>aAg	p.R831K		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	831	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R831K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CACTTTCTTCCTGAGAAGGCC	0.572000													9	277					0	0	0.004482	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765853	171765853	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:171765853C>T	ENST00000311601.5	-	13	2426	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	752	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.Q752Q(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGTCTCTGCTGGGGAGCCT	0.602000													18	108					0	0	0.007413	0	0
ACBD5	91452	broad.mit.edu	37	10	27507108	27507108	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:27507108C>T	ENST00000396271.3	-	7	756	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.K175K|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375901.1_Silent_p.K101K|ACBD5_ENST00000375888.1_Silent_p.K219K	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	219					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCATCATTTTCTTATCTTTTA	0.353000													5	190					0	0	0.021553	0	0
RNF213	57674	broad.mit.edu	37	17	78321357	78321357	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:78321357C>T	ENST00000582970.1	+	29	9365	c.9222C>T	c.(9220-9222)ttC>ttT	p.F3074F	RNF213_ENST00000508628.2_Silent_p.F3123F|RNF213_ENST00000336301.6_Silent_p.F1147F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTCTGGTTTCCCCAAGGACC	0.502000													6	209					0	0	0.029380	0	0
IPMK	253430	broad.mit.edu	37	10	59986896	59986896	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:59986896T>G	ENST00000373935.3	-	3	603	c.281A>C	c.(280-282)tAt>tCt	p.Y94S		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	94						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.Y94S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						GTCAGCAGCATAAACCTGAAA	0.348000													12	89					0	0	0.007413	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	78					0	0	0.003080	0	0
NCAPH	23397	broad.mit.edu	37	2	97039033	97039033	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:97039033C>G	ENST00000455200.1	+	18	2432	c.2137C>G	c.(2137-2139)Cta>Gta	p.L713V	NCAPH_ENST00000240423.4_Missense_Mutation_p.L724V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L588V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	724					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.L724V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCCTCAGAATCTAAAACTGGA	0.433000													6	214					0	0	0.003080	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39477517	39477517	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:39477517G>C	ENST00000407997.3	+	4	865	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E170Q|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.E170Q(2)|p.E170K(1)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CAGCCAAAGAGAGCTATTTGA	0.478000													7	283					0	0	0.003080	0	0
RNF44	22838	broad.mit.edu	37	5	175959120	175959120	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:175959120C>T	ENST00000274811.4	-	3	706	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	RNF44_ENST00000537487.1_5'UTR	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	61	Pro-rich.						zinc ion binding	p.R61Q(2)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGAGGTCGGGACGGCGG	0.726000													3	18					0	0	0.029380	0	0
CEP97	79598	broad.mit.edu	37	3	101476618	101476618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:101476618G>A	ENST00000341893.3	+	9	1920	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.D390N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	390	CEP110 binding.					centrosome|nucleus	protein binding	p.D390N(4)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CATACAGACGGATGAGGACAA	0.418000													28	123					0	0	0.037714	0	0
FGF7	2252	broad.mit.edu	37	15	49776611	49776611	+	Silent	SNP	T	T	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAATGTTTGTTGCCTTAAATC	0.358000													5	54					0	0	0.028581	0	0
PKP2	5318	broad.mit.edu	37	12	32955458	32955458	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:32955458C>T	ENST00000340811.4	-	10	2154	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	PKP2_ENST00000070846.6_Silent_p.Q726Q	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	726					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACTTTCCTTCTGGACAACTG	0.453000													8	251					0	0	0.004482	0	0
NETO1	81832	broad.mit.edu	37	18	70416305	70416305	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:70416305A>G	ENST00000327305.6	-	10	2217	c.1560T>C	c.(1558-1560)tcT>tcC	p.S520S	NETO1_ENST00000299430.2_Silent_p.S519S|NETO1_ENST00000583169.1_Silent_p.S520S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	520					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S520S(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTTGCTTAGAGACCCAATGA	0.343000													34	168					0	0	0.030466	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	91					0	0	0.014758	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000													11	316					0	0	0.008291	0	0
JMJD4	65094	broad.mit.edu	37	1	227921232	227921232	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:227921232G>C	ENST00000366758.3	-	4	842	c.843C>G	c.(841-843)ctC>ctG	p.L281L	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Silent_p.L281L	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	281	JmjC.							p.L281L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTGTGTCGCAGAGTGCTGGGG	0.657000													6	59					0	0	0.004482	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	91					0	0	0.014758	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631261	99631261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:99631261G>A	ENST00000324306.6	+	6	1367	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R342K|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R165K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R378K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGTCTCACAGATGTGATGAA	0.473000													6	121					0	0	0.003080	0	0
INTS4	92105	broad.mit.edu	37	11	77618831	77618831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr11:77618831G>A	ENST00000534064.1	-	16	1982	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Nonsense_Mutation_p.Q25*	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	650					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AATTCAGATTGAAGTTCTCCA	0.408000													4	89					0	0	0.003080	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416986	107416986	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:107416986A>G	ENST00000340010.5	-	15	1772	c.1588T>C	c.(1588-1590)Tat>Cat	p.Y530H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Y495H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	530	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.Y530H(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTGGCTCATACATCTGTAAG	0.378000													36	80					0	0	0.025465	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631162	99631162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:99631162G>C	ENST00000324306.6	+	6	1268	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R309T|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R132T	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	345					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R345T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGGAGAGAGAGGTCCAAGG	0.483000													4	69					0	0	0.009096	0	0
PREPL	9581	broad.mit.edu	37	2	44571027	44571027	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:44571027A>G	ENST00000541738.1	-	4	592	c.206T>C	c.(205-207)aTt>aCt	p.I69T	PREPL_ENST00000409936.1_Missense_Mutation_p.I158T|PREPL_ENST00000260648.6_Missense_Mutation_p.I158T|PREPL_ENST00000409957.1_Missense_Mutation_p.I69T|PREPL_ENST00000410081.1_Missense_Mutation_p.I158T|PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000378511.3_Missense_Mutation_p.I158T|PREPL_ENST00000409272.1_Missense_Mutation_p.I158T|PREPL_ENST00000378520.3_Missense_Mutation_p.I158T|PREPL_ENST00000409411.1_Missense_Mutation_p.I69T	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	158					proteolysis	cytosol	serine-type endopeptidase activity	p.I158T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATACAATCAATGAAGGGCTG	0.343000													60	151					0	0	0.014410	0	0
REC8	9985	broad.mit.edu	37	14	24648000	24648000	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24648000G>A	ENST00000311457.3	+	15	1677	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	REC8_ENST00000559919.1_Missense_Mutation_p.E360K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	361	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCTACCCCCTGAACTACTGGG	0.582000													8	559					0	0	0.004482	0	0
NARG2	79664	broad.mit.edu	37	15	60720680	60720680	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:60720680C>G	ENST00000261520.4	-	15	3002	c.2768G>C	c.(2767-2769)aGa>aCa	p.R923T	NARG2_ENST00000439632.1_Missense_Mutation_p.R786T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	923						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAGGTATTCTTCCATGATG	0.398000													4	177					0	0	0.009096	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444280	26444280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:26444280G>A	ENST00000244519.2	+	4	424	c.181G>A	c.(181-183)Gag>Aag	p.E61K	BTN3A3_ENST00000361232.3_Missense_Mutation_p.E19K|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E19K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	61	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CATGAGTGCAGAGACCATGGA	0.572000													5	252					0	0	0.021553	0	0
FRYL	285527	broad.mit.edu	37	4	48636353	48636353	+	Silent	SNP	A	A	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:48636353A>C	ENST00000537810.1	-	4	679	c.75T>G	c.(73-75)gcT>gcG	p.A25A	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.A25A|FRYL_ENST00000503238.1_Silent_p.A25A|FRYL_ENST00000358350.4_Silent_p.A25A			O94915	FRYL_HUMAN	FRY-like	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A25A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTTGAACAGCAAATTCTG	0.368000													46	128					0	0	0.014410	0	0
SNORA7B	677797	broad.mit.edu	37	3	129116166	129116166	+	RNA	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:129116166G>C	ENST00000384360.1	-	0	25				RPL32P3_ENST00000514355.1_RNA	NR_002992.2																						ATACTAGGCAGTCTCCAGATG	0.542000													4	228					0	0	0.009096	0	0
WDR91	29062	broad.mit.edu	37	7	134896244	134896244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:134896244G>A	ENST00000354475.4	-	1	42	c.11C>T	c.(10-12)gCc>gTc	p.A4V	WDR91_ENST00000344400.5_Missense_Mutation_p.A4V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	4								p.A4V(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCGCTCCACGGCCTCCGCCAT	0.706000													12	57					0	0	0.024245	0	0
COL14A1	7373	broad.mit.edu	37	8	121313043	121313043	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr8:121313043C>G	ENST00000297848.3	+	36	4657	c.4387C>G	c.(4387-4389)Cca>Gca	p.P1463A	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1463A|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1368A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1463	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1463A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTGGGACCAGCGGGCCC	0.418000													11	353					0	0	0.010729	0	0
RAD52	5893	broad.mit.edu	37	12	1022604	1022604	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:1022604G>C	ENST00000358495.3	-	12	1348	c.1210C>G	c.(1210-1212)Cat>Gat	p.H404D	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.H327D|RAD52_ENST00000430095.2_Missense_Mutation_p.H404D	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	404					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCTTCCTATGAGATTCCCAG	0.368000								Homologous recombination					6	262					0	0	0.021553	0	0
TCFL5	10732	broad.mit.edu	37	20	61488962	61488962	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:61488962C>G	ENST00000335351.3	-	4	1115	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	TCFL5_ENST00000217162.5_Missense_Mutation_p.K293N	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	341					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.K341N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCGATTCCTCTTCAGTGCTT	0.438000													5	181					0	0	0.021553	0	0
BRCA2	675	broad.mit.edu	37	13	32972777	32972777	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr13:32972777C>G	ENST00000544455.1	+	27	10354	c.10127C>G	c.(10126-10128)tCa>tGa	p.S3376*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S3376*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3376					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S3376*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCACCAGTTCAGAAGATTAT	0.413000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	92					0	0	0.014758	0	0
ANKRD12	23253	broad.mit.edu	37	18	9275652	9275652	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:9275652C>T	ENST00000383440.2	+	10	6082	c.5825C>T	c.(5824-5826)cCa>cTa	p.P1942L	ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1965L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1942L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1965						nucleus		p.P1965L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACAATGTACCATTGGACTCT	0.358000													42	154					0	0	0.010771	0	0
C22orf29	79680	broad.mit.edu	37	22	19839364	19839364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:19839364C>A	ENST00000405640.1	-	2	1089	c.421G>T	c.(421-423)Gag>Tag	p.E141*	C22orf29_ENST00000407472.1_Nonsense_Mutation_p.E141*|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.E141*|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	141								p.E141*(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTGAGGATCTCGCAGACACGG	0.612000													8	204					9.70103e-10	1.02967e-09	0.008291	1	0
CMAS	55907	broad.mit.edu	37	12	22208509	22208509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:22208509G>A	ENST00000229329.2	+	3	654	c.524G>A	c.(523-525)cGc>cAc	p.R175H		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	175					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTTGTGAGACGCCATCAGTTT	0.323000													5	171					0	0	0.029380	0	0
MKI67	4288	broad.mit.edu	37	10	129903821	129903821	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:129903821C>T	ENST00000368654.3	-	13	6658	c.6283G>A	c.(6283-6285)Gat>Aat	p.D2095N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1735N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2095	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTTTGTCATCAGTTGTTGAT	0.498000													8	509					0	0	0.004482	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													14	144					0	0	0.007413	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716054	48716054	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:48716054C>G	ENST00000294129.2	-	12	2027	c.1908G>C	c.(1906-1908)atG>atC	p.M636I	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.M636I|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.M629I	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	636					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGAGCCATCATGTCTGTGT	0.572000													4	116					0	0	0.009096	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	44					0	0	0.009096	0	0
CCNI	10983	broad.mit.edu	37	4	77969418	77969418	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:77969418C>T	ENST00000237654.4	-	7	1664	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CCNI_ENST00000537948.1_Missense_Mutation_p.G349E	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	363					spermatogenesis			p.G363E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGAAGCATGTCCCTCTTGTCT	0.418000													9	169					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103491388	103491388	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:103491388G>C	ENST00000358392.2	-	6	1218	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q301E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTGATGCTTGATAACTTTTC	0.363000													10	289					0	0	0.008291	0	0
CDCA7	83879	broad.mit.edu	37	2	174224196	174224196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:174224196G>C	ENST00000306721.3	+	3	464	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	CDCA7_ENST00000410101.3_Missense_Mutation_p.E77Q|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000347703.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	43					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGGTTTCTCAGAGAGTGAGAT	0.383000													4	154					0	0	0.009096	0	0
OPHN1	4983	broad.mit.edu	37	X	67430108	67430108	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:67430108G>A	ENST00000355520.5	-	9	1360	c.719C>T	c.(718-720)tCc>tTc	p.S240F	OPHN1_ENST00000540071.1_Missense_Mutation_p.S240F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	240					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S240F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCGGGTACTGGAGAAATGATT	0.378000													28	86					0	0	0.024334	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:140581561C>T	ENST00000354757.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	PCDHB11_ENST00000536699.1_Silent_p.D373D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D738D(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612000													9	264					0	0	0.008291	0	0
WIPF2	147179	broad.mit.edu	37	17	38430162	38430162	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:38430162C>G	ENST00000323571.4	+	6	1331	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	WIPF2_ENST00000536600.1_Nonsense_Mutation_p.S106*|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Nonsense_Mutation_p.S106*|WIPF2_ENST00000585043.1_Nonsense_Mutation_p.S364*|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.S364*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	364						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCTCCACCCTCAAGGACGCCA	0.622000										HNSCC(43;0.11)			4	169					0	0	0.029380	0	0
GLG1	2734	broad.mit.edu	37	16	74496473	74496473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:74496473G>T	ENST00000422840.2	-	21	2846	c.2847C>A	c.(2845-2847)ttC>ttA	p.F949L	GLG1_ENST00000447066.2_Missense_Mutation_p.F938L|GLG1_ENST00000205061.5_Missense_Mutation_p.F949L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	949						Golgi membrane|integral to membrane	receptor binding	p.F949L(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TACCGTGACAGAATTTAGGAA	0.433000													29	91					4.59853e-10	4.92409e-10	0.027356	1	0
AHI1	54806	broad.mit.edu	37	6	135787398	135787398	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:135787398C>G	ENST00000367800.4	-	5	519	c.303G>C	c.(301-303)ttG>ttC	p.L101F	AHI1_ENST00000327035.6_Missense_Mutation_p.L101F|AHI1_ENST00000457866.2_Missense_Mutation_p.L101F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	101						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTGTTCCTCAATTTGTTTT	0.398000													8	416					0	0	0.004482	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099641	142099641	+	RNA	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:142099641T>C	ENST00000390359.3	-	0	199																											GGCCTGTTGGTACCAAAAAAG	0.512000													18	92					0	0	0.008871	0	0
AATF	26574	broad.mit.edu	37	17	35344013	35344013	+	Silent	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:35344013A>G	ENST00000225402.5	+	5	1181	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	310	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.T310T(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TAGATGGGACAAAGCCCAATG	0.403000													34	120					0	0	0.013726	0	0
PPP1R42	286187	broad.mit.edu	37	8	67923043	67923043	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr8:67923043G>A	ENST00000522909.1	-	5	643	c.459C>T	c.(457-459)atC>atT	p.I153I	PPP1R42_ENST00000324682.5_Silent_p.I153I			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	153																	TATTATTGCTGATATTCAATA	0.323000													5	133					0	0	0.029380	0	0
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483000													55	178					0	0	0.014410	0	0
CKAP5	9793	broad.mit.edu	37	11	46829658	46829658	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr11:46829658C>G	ENST00000529230.1	-	8	947	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	CKAP5_ENST00000312055.5_Missense_Mutation_p.E301Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E301Q|CKAP5_ENST00000415402.1_Missense_Mutation_p.E301Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	301					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						TCTACAGACTCCAGGGCCTCT	0.368000													6	471					0	0	0.029380	0	0
CABLES2	81928	broad.mit.edu	37	20	60967531	60967531	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:60967531C>T	ENST00000279101.5	-	8	1013	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	335					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGAGGGCTTCACGTATTCTA	0.557000													7	273					0	0	0.003080	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126786	40126786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:40126786G>A	ENST00000235628.1	-	5	705	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	236					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCTTCTCATGCTCGAAGAAT	0.632000													6	220					0	0	0.029380	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535874	72535874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr11:72535874C>T	ENST00000321297.5	+	9	1121	c.983C>T	c.(982-984)gCt>gTt	p.A328V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	328					autophagy|protein transport	cytoplasm	protein binding	p.A328V(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCTACCCGGGCTCAGGATGTG	0.612000													12	47					0	0	0.016723	0	0
FAM218A	152756	broad.mit.edu	37	4	165878524	165878524	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:165878524C>G	ENST00000513876.2	+	1	425	c.350C>G	c.(349-351)tCa>tGa	p.S117*	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	117								p.S117*(1)									CACTCCAAGTCAGAAGGACCA	0.567000													5	100					0	0	0.021553	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:12887399C>T	ENST00000535591.1	-	3	653	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000													142	439					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56382256	56382256	+	Missense_Mutation	SNP	C	C	G	rs145998081		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:56382256C>G	ENST00000301295.6	+	7	2840	c.2418C>G	c.(2416-2418)aaC>aaG	p.N806K	NLRP4_ENST00000346986.5_Missense_Mutation_p.N750K|NLRP4_ENST00000587891.1_Missense_Mutation_p.N731K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	806							ATP binding	p.N806K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCGTAACAAGAGCGTGC	0.517000													4	123					0	0	0.009096	0	0
PEG3	5178	broad.mit.edu	37	19	57325423	57325423	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:57325423C>T	ENST00000326441.9	-	10	4750	c.4387G>A	c.(4387-4389)Gaa>Aaa	p.E1463K	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1337K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1339K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1463K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1463	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1463K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCTCTTTCTTCTGGGTCT	0.547000													6	218					0	0	0.029380	0	0
WDR52	55779	broad.mit.edu	37	3	113120482	113120482	+	Silent	SNP	G	G	A	rs143438550	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:113120482G>A	ENST00000393845.2	-	10	1341	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	WDR52_ENST00000295868.2_Silent_p.L425L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	425								p.L425L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCATAGAGAAGAGATTCACAT	0.363000													4	96					0	0	0.009096	0	0
MLLT4	4301	broad.mit.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:168349093T>C	ENST00000366806.2	+	29	3887	c.3745T>C	c.(3745-3747)Tgg>Cgg	p.W1249R	MLLT4_ENST00000447894.2_Missense_Mutation_p.W1249R|MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256R|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249R|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248R|MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249R|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458000			T	MLL	AL								4	89					0	0	0.009096	0	0
MYO18A	399687	broad.mit.edu	37	17	27413574	27413574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:27413574C>G	ENST00000527372.1	-	39	5914	c.5734G>C	c.(5734-5736)Gag>Cag	p.E1912Q	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1875Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1912Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1912Q|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1912					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E1912Q(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTAGCAGCCTCCAGGCTTTCT	0.557000													3	49					0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191834	5191834	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:5191834G>A	ENST00000274181.7	+	8	1382	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R415H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	415	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R415H(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTAAATATCGCAGCTGCACG	0.423000													10	305					0	0	0.008291	0	0
PLD2	5338	broad.mit.edu	37	17	4719995	4719995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:4719995C>G	ENST00000263088.6	+	15	1667	c.1536C>G	c.(1534-1536)agC>agG	p.S512R	PLD2_ENST00000572940.1_Missense_Mutation_p.S512R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	512	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S512R(4)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGGACTACAGCAATCTTATCA	0.607000													45	142					0	0	0.013114	0	0
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502000													43	128					2.46787e-29	2.71466e-29	0.014410	1	0
ZNF558	148156	broad.mit.edu	37	19	8922322	8922322	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:8922322G>A	ENST00000601372.1	-	10	1555	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ZNF558_ENST00000301475.1_Missense_Mutation_p.H282Y|ZNF558_ENST00000444186.2_Missense_Mutation_p.H211Y			Q96NG5	ZN558_HUMAN	zinc finger protein 558	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H282Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATGCTATTGTGCCCAGTGAGA	0.453000													65	221					0	0	0.014410	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:73163796G>A	ENST00000545377.1	+	19	2424	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G750R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G437R|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G750R|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G750R	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.G750R(4)									GGAGACTGTGGGACAGGTCCA	0.522000													15	35					0	0	0.033300	0	0
RTN2	6253	broad.mit.edu	37	19	45998365	45998365	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:45998365C>G	ENST00000245923.4	-	2	302	c.67G>C	c.(67-69)Gat>Cat	p.D23H	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.D23H|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	23						integral to endoplasmic reticulum membrane	signal transducer activity	p.D23H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTGTGGAATCAGGAGTTGAG	0.547000													6	171					0	0	0.021553	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	76					0	0	0.029380	0	0
NMBR	4829	broad.mit.edu	37	6	142409491	142409491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:142409491G>C	ENST00000258042.1	-	1	445	c.305C>G	c.(304-306)tCg>tGg	p.S102W	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	102					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.S102W(1)|p.S102L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GAAGTAGCGCGAGGCGTCCAC	0.592000													4	75					0	0	0.009096	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159839	170159839	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:170159839G>A	ENST00000328939.4	+	6	1008	c.471G>A	c.(469-471)atG>atA	p.M157I	KCNIP1_ENST00000377360.4_Missense_Mutation_p.M166I|KCNIP1_ENST00000434108.1_Missense_Mutation_p.M182I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M157I|KCNIP1_ENST00000520740.1_Missense_Mutation_p.M129I|KCNIP1_ENST00000411494.1_Missense_Mutation_p.M168I	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	168	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTATGACATGATGGGGAAAT	0.488000													4	137					0	0	0.014758	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572387	101572387	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:101572387C>G	ENST00000326172.5	+	5	1132	c.1017C>G	c.(1015-1017)agC>agG	p.S339R	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S239R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	339	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAACCAAAGCTTAGTTTCCC	0.458000													6	196					0	0	0.021553	0	0
LEO1	123169	broad.mit.edu	37	15	52258273	52258273	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:52258273C>T	ENST00000299601.5	-	2	547	c.487G>A	c.(487-489)Gat>Aat	p.D163N	LEO1_ENST00000315141.5_Missense_Mutation_p.D163N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	163	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.D163N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCATCATCAGAATTTTGT	0.413000													14	431					0	0	0.020292	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462203	37462203	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:37462203G>A	ENST00000381792.2	-	19	2532	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	TMPRSS6_ENST00000406725.1_Silent_p.L776L|TMPRSS6_ENST00000406856.1_Silent_p.L798L|TMPRSS6_ENST00000346753.3_Silent_p.L785L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	785	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.L785L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCACAGCCCAGGCCCCAGCTG	0.632000													9	26					0	0	0.020292	0	0
POTEH	23784	broad.mit.edu	37	22	16267027	16267027	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr22:16267027G>C	ENST00000343518.6	-	9	1473	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474								p.A474A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTCAGCAGTGGCACCGTTAG	0.408000													13	572					0	0	0.016723	0	0
MAML3	55534	broad.mit.edu	37	4	140641170	140641170	+	Silent	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:140641170C>G	ENST00000509479.2	-	5	3580	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G908G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATTCCAACCCCCTGCCCAG	0.557000													95	355					0	0	0.014410	0	0
TWSG1	57045	broad.mit.edu	37	18	9396396	9396396	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr18:9396396G>A	ENST00000262120.5	+	4	533	c.342G>A	c.(340-342)ttG>ttA	p.L114L	TWSG1_ENST00000581641.1_Silent_p.L114L	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	114										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						ATACTCAGTTGAATTGGAACA	0.448000													5	234					0	0	0.014758	0	0
PAQR9	344838	broad.mit.edu	37	3	142681704	142681704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:142681704C>T	ENST00000340634.3	-	1	474	c.475G>A	c.(475-477)Gcg>Acg	p.A159T		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity	p.A159T(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CTGATGGACGCGTAGTCCAGG	0.612000													3	16					0	0	0.021553	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685500	31685500	+	Silent	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:31685500G>A	ENST00000375483.3	+	11	1476	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	492						cytoplasm|extracellular region	lipid binding										TGATGCTGCAGAAGGACAAAG	0.582000													6	284					0	0	0.029380	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													3	43					0	0	0.004672	0	0
PSME2	5721	broad.mit.edu	37	14	24614335	24614335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24614335C>A	ENST00000216802.5	-	6	931	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSME2_ENST00000560410.1_Nonsense_Mutation_p.E87*|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGGACTTTCTCATTCCCAGGG	0.507000													7	335					0.00198382	0.00206933	0.029380	1	0
CDH12	1010	broad.mit.edu	37	5	22078683	22078683	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:22078683G>T	ENST00000382254.1	-	5	1189	c.103C>A	c.(103-105)Cca>Aca	p.P35T	CDH12_ENST00000504376.2_Missense_Mutation_p.P35T|CDH12_ENST00000522262.1_Missense_Mutation_p.P35T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	35					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTTCTCTTGGCTCTGTGGCT	0.458000										HNSCC(59;0.17)			10	375					0.00244969	0.00253345	0.020292	1	0
FILIP1	27145	broad.mit.edu	37	6	76063272	76063272	+	Silent	SNP	C	C	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr6:76063272C>T	ENST00000393004.2	-	4	833	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FILIP1_ENST00000237172.7_Silent_p.L204L|FILIP1_ENST00000370020.1_Silent_p.L105L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	204								p.L204L(2)		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						GCTCCTGCTCCAGCAGGTTGG	0.527000													86	313					0	0	0.014410	0	0
KIF22	3835	broad.mit.edu	37	16	29816619	29816619	+	Silent	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:29816619T>C	ENST00000561482.1	+	14	2419	c.1782T>C	c.(1780-1782)tgT>tgC	p.C594C	KIF22_ENST00000400751.5_Silent_p.C594C|KIF22_ENST00000569382.2_Silent_p.C608C|KIF22_ENST00000160827.4_Silent_p.C662C	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	662					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.C662C(2)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCAGCGCTGTGGCGCCTCCT	0.592000													59	250					0	0	0.014410	0	0
PRDM16	63976	broad.mit.edu	37	1	3319367	3319367	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:3319367T>C	ENST00000378398.3	+	7	774	c.692T>C	c.(691-693)tTc>tCc	p.F231S	PRDM16_ENST00000442529.2_Missense_Mutation_p.F230S|PRDM16_ENST00000378391.2_Missense_Mutation_p.F230S|PRDM16_ENST00000270722.5_Missense_Mutation_p.F230S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.F231S|PRDM16_ENST00000511072.1_Missense_Mutation_p.F231S|PRDM16_ENST00000441472.2_Missense_Mutation_p.F230S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	230					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.F230S(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGCCCACGTTCCGCTGTGAC	0.627000			T	EVI1	"""MDS, AML"""								21	73					0	0	0.016522	0	0
CPA3	1359	broad.mit.edu	37	3	148586705	148586705	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:148586705G>C	ENST00000296046.3	+	3	200	c.148G>C	c.(148-150)Gac>Cac	p.D50H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	50					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.D50H(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTGCAGCTTGACTTCTGGTA	0.428000													5	132					0	0	0.014758	0	0
USP9X	8239	broad.mit.edu	37	X	41073863	41073863	+	Silent	SNP	T	T	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:41073863T>A	ENST00000324545.7	+	34	5865	c.5232T>A	c.(5230-5232)atT>atA	p.I1744I	USP9X_ENST00000378308.2_Silent_p.I1744I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1744					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGTAGACATTAGAAATCACC	0.308000													4	97					0	0	0.014758	0	0
THAP6	152815	broad.mit.edu	37	4	76452395	76452395	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr4:76452395G>C	ENST00000311638.3	+	5	708	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.E214Q|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.E172Q|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000502620.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	214						microtubule cytoskeleton	DNA binding|metal ion binding	p.E214Q(1)		lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTGTTGTCAGGAGAGCATAGA	0.348000													6	201					0	0	0.003080	0	0
MCF2	4168	broad.mit.edu	37	X	138698557	138698557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chrX:138698557C>A	ENST00000520602.1	-	12	1540	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MCF2_ENST00000338585.6_Missense_Mutation_p.A359S|MCF2_ENST00000370573.4_Missense_Mutation_p.A359S|MCF2_ENST00000370576.4_Missense_Mutation_p.A359S|MCF2_ENST00000536274.1_Missense_Mutation_p.A320S|MCF2_ENST00000414978.1_Missense_Mutation_p.A419S|MCF2_ENST00000370578.4_Missense_Mutation_p.A504S|MCF2_ENST00000519895.1_Missense_Mutation_p.A419S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A359S(2)|p.A419S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCTTTCTGAGCATCTTCTTTA	0.343000													27	141					4.87955e-14	5.27166e-14	0.027356	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057394	46057394	+	Silent	SNP	C	C	T	rs150164802		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:46057394C>T	ENST00000380095.1	+	1	122	c.60C>T	c.(58-60)gtC>gtT	p.V20V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament		p.V20V(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCGGGTAGTCGACTGCCCAG	0.672000													10	127					0	0	0.013726	0	0
CACTIN	58509	broad.mit.edu	37	19	3612168	3612168	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:3612168T>A	ENST00000429344.2	-	10	2082	c.2030A>T	c.(2029-2031)aAg>aTg	p.K677M	CACTIN_ENST00000248420.5_Missense_Mutation_p.K677M|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.K609M	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.K609M(1)|p.K677M(1)									GATGTTGAACTTGTATCCCTG	0.572000													8	265					0	0	0.003080	0	0
KCND2	3751	broad.mit.edu	37	7	119914821	119914821	+	Silent	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:119914821G>C	ENST00000331113.4	+	1	1100	c.135G>C	c.(133-135)ctG>ctC	p.L45L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	45					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L45L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCATTGTGCTGAATGTGAGTG	0.602000													8	464					0	0	0.003080	0	0
MAF1	84232	broad.mit.edu	37	8	145160793	145160793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr8:145160793G>C	ENST00000534585.1	+	3	496	c.105G>C	c.(103-105)aaG>aaC	p.K35N	MAF1_ENST00000532522.1_Missense_Mutation_p.K35N|MAF1_ENST00000322428.5_Missense_Mutation_p.K35N			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	35					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.K35N(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTCATGTAAGATGGCAGGAG	0.562000													9	249					0	0	0.006214	0	0
PAX1	5075	broad.mit.edu	37	20	21689285	21689285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr20:21689285G>T	ENST00000398485.2	+	3	1060	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A312S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	336					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.A242S(2)|p.A336S(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCCACCCCCGCAGTGAATGG	0.602000													60	85					3.66258e-25	3.99254e-25	0.014410	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638177	234638177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:234638177G>T	ENST00000482026.1	+	1	424	c.405G>T	c.(403-405)gaG>gaT	p.E135D	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019093.2	NP_061966.1												p.E135D(2)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACATAATGAGGCCCTGATCA	0.428000													101	326					1.70349e-48	1.89103e-48	0.014410	1	0
ESYT2	57488	broad.mit.edu	37	7	158552780	158552780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:158552780G>T	ENST00000251527.5	-	12	1501	c.1436C>A	c.(1435-1437)aCg>aAg	p.T479K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	507						integral to membrane|plasma membrane		p.T479K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGGCATTAACGTGAGCCACTC	0.458000													20	104					2.70639e-06	2.8476e-06	0.014323	1	0
NUP155	9631	broad.mit.edu	37	5	37303421	37303421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:37303421C>A	ENST00000231498.3	-	28	3461	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.E1022D|NUP155_ENST00000381843.2_Missense_Mutation_p.E1027D	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1086					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.E1086E(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTGTTCTTCTCGTAATACC	0.408000													5	175					0.0215528	0.0221007	0.021553	1	0
ABCA13	154664	broad.mit.edu	37	7	48312734	48312734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:48312734C>G	ENST00000435803.1	+	17	3495	c.3471C>G	c.(3469-3471)atC>atG	p.I1157M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1157					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGACTGAAATCTGGGAAACCA	0.363000													4	152					0	0	0.014758	0	0
CAPZA2	830	broad.mit.edu	37	7	116546335	116546335	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:116546335G>C	ENST00000361183.2	+	6	584	c.445G>C	c.(445-447)Gat>Cat	p.D149H	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	149					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	p.D149H(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CAAAAAAATAGATGGACAGCA	0.323000													5	100					0	0	0.029380	0	0
DMXL1	1657	broad.mit.edu	37	5	118482991	118482991	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr5:118482991G>A	ENST00000311085.8	+	17	2817	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E913K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	913								p.E913K(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCAGCCAGAAGAACATTATTC	0.393000													5	117					0	0	0.014758	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	40					0	0	0.021553	0	0
SAMD8	142891	broad.mit.edu	37	10	76910777	76910777	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr10:76910777G>C	ENST00000542569.1	+	2	594	c.491G>C	c.(490-492)gGa>gCa	p.G164A	SAMD8_ENST00000372690.3_Missense_Mutation_p.G227A|SAMD8_ENST00000372687.3_Missense_Mutation_p.G164A	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	164					sphingomyelin biosynthetic process	integral to membrane		p.G227A(1)|p.G164A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATAGTATTTGGATTTACATCT	0.358000													5	94					0	0	0.014758	0	0
NLRC5	84166	broad.mit.edu	37	16	57054780	57054780	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:57054780G>C	ENST00000436936.1	+	3	381	c.156G>C	c.(154-156)caG>caC	p.Q52H	NLRC5_ENST00000262510.6_Missense_Mutation_p.Q52H|NLRC5_ENST00000539144.1_Missense_Mutation_p.Q52H|NLRC5_ENST00000308149.7_Missense_Mutation_p.Q52H			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	52					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	p.Q52H(1)		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)				ACCCTGAACAGAGAGTCATCC	0.547000													4	99					0	0	0.014758	0	0
UXS1	80146	broad.mit.edu	37	2	106713239	106713239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:106713239delC	ENST00000283148.7	-	14	1178	c.1081delG	c.(1081-1083)atfs	p.D362fs	UXS1_ENST00000409501.3_Frame_Shift_Del_p.D357fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.D300fs|UXS1_ENST00000409032.1_Frame_Shift_Del_p.D189fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	357					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGTGGGTCATCCTGGGCTTCG	0.473													8	7	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													8	188	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	76	---	---	---	---					
ENTPD3-AS1	285266	broad.mit.edu	37	3	40418595	40418595	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr3:40418595delG	ENST00000439293.1	-	0	143																											agggaggggaggggagggagg	0.557													2	4	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330																											TATTTGTCAAGgtgtgtgtgtg	0.391													12	107	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100030533	100030551	+	Splice_Site	DEL	TGCCCTCAGGGTAATTATG	TGCCCTCAGGGTAATTATG	-	rs112447917	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:100030533_100030551delTGCCCTCAGGGTAATTATG	ENST00000310512.2	+	2	2059_2069	c.1671_splice	c.e2-1	p.T557_splice	MEPCE_ENST00000414441.1_Splice_Site_p.T88_splice	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	557	Bin3-type SAM.						methyltransferase activity	p.V561L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGATTCTTGCCCTCAGGGTAATTATGTGCTGGATCG	0.571													12	263	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)aag>a	p.SK136del	PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del|PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	330	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596													22	824	---	---	---	---					
C12orf74	338809	broad.mit.edu	37	12	93100418	93100423	+	In_Frame_Del	DEL	CAGAGT	CAGAGT	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:93100418_93100423delCAGAGT	ENST00000544406.2	+	2	277_282	c.11_16delCAGAGT	c.(10-18)aca>a	p.TES4del	C12orf74_ENST00000397833.3_In_Frame_Del_p.TES4del			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	4										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATGGAGAAAACAGAGTCATTCTGTCC	0.529													12	76	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742098	52742099	+	RNA	INS	-	-	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr13:52742098_52742099insA	ENST00000451298.1	-	0	3540_3541				RP11-64P12.8_ENST00000606031.1_RNA																							TCTAGATCACCAGCTTCTCCAC	0.475													7	20	---	---	---	---					
KHNYN	23351	broad.mit.edu	37	14	24901931	24901931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24901931delT	ENST00000251343.5	+	4	1492	c.1353delT	c.(1351-1353)cafs	p.H451fs	KHNYN_ENST00000556842.1_Frame_Shift_Del_p.H451fs|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.H451fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	451										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACTACAGGCATGGCCTCCAGC	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	157	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54557597	54557597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:54557597delA	ENST00000545554.1	+	9	3721	c.3721delA	c.(3721-3723)gtfs	p.S1241fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.S1241fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.S1239fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1241	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAGGGTCTAGTGATCCATA	0.328													2	4	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91548651	91548653	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:91548651_91548653delTTC	ENST00000333371.3	-	14	1415_1417	c.1062_1064delGAA	c.(1060-1065)aaa>aa	p.KK354del	VPS33B_ENST00000535843.1_In_Frame_Del_p.KK263del|VPS33B_ENST00000535906.1_In_Frame_Del_p.KK327del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	354					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTGCTTGGTTTTCTTCTTCATGA	0.507													11	226	---	---	---	---					
C16orf3	750	broad.mit.edu	37	16	90095545	90095546	+	In_Frame_Ins	INS	-	-	CTACGGGGCAGCCTATGGGGCAGG	rs11274945		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG	ENST00000408886.2	-	1	763_764	c.205_206insCCTGCCCCATAGGCTGCCCCGTAG	c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc	p.68_69insPAP*AAP*	GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	76										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCCATGGAGCctacggggcag	0.658													6	8	---	---	---	---					
TBC1D3P3	653017	broad.mit.edu	37	17	20451585	20451585	+	RNA	DEL	C	C	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:20451585delC	ENST00000591705.1	+	0	2902																											CAACACCAGGCCCCGGATGTT	0.498													2	4	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			10	173	---	---	---	---					
AF038458.3	0	broad.mit.edu	37	19	36448398	36448398	+	RNA	DEL	T	T	-	rs35742682		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:36448398delT	ENST00000592518.1	+	0	244																											ACCATAACCCttttttttttt	0.498													5	6	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53474118	53474118	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:53474118delG	ENST00000600068.1	-	0	270				ZNF702P_ENST00000270443.4_RNA																							AACAACAATAGGTTTCCAATT	0.323													9	27	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085837	11085838	+	RNA	INS	-	-	TAC	rs151194290	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chr21:11085837_11085838insTAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		accatcaccatcaccaccacca	0.584													3	5	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142506	53142507	+	RNA	INS	-	-	A	rs146094031		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	4ef77426-560d-48fb-9adc-334962565c54	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													4	9	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													3	3	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106713239	106713239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr2:106713239delC	ENST00000283148.7	-	14	1178	c.1081delG	c.(1081-1083)atfs	p.D362fs	UXS1_ENST00000409501.3_Frame_Shift_Del_p.D357fs|UXS1_ENST00000409032.1_Frame_Shift_Del_p.D189fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.D300fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	357					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGTGGGTCATCCTGGGCTTCG	0.473													8	20	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100030533	100030551	+	Splice_Site	DEL	TGCCCTCAGGGTAATTATG	TGCCCTCAGGGTAATTATG	-	rs112447917	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:100030533_100030551delTGCCCTCAGGGTAATTATG	ENST00000310512.2	+	2	2059_2069	c.1671_splice	c.e2-1	p.T557_splice	MEPCE_ENST00000414441.1_Splice_Site_p.T88_splice	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	557	Bin3-type SAM.						methyltransferase activity	p.V561L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGATTCTTGCCCTCAGGGTAATTATGTGCTGGATCG	0.571													18	277	---	---	---	---					
RP4-555L14.4	0	broad.mit.edu	37	7	151124924	151124926	+	RNA	DEL	CTC	CTC	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr7:151124924_151124926delCTC	ENST00000465549.1	+	0	156_158																											CAAGGAccttctcctcctcctcc	0.611													2	4	---	---	---	---					
HOXC13	3229	broad.mit.edu	37	12	54333057	54333058	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:54333057_54333058insA	ENST00000243056.3	+	1	523_524	c.367_368insA	c.(367-369)cccfs	p.P123fs	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	123						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GGGCTACGGCTACCCCTTCGGG	0.718			T	NUP98	AML								5	8	---	---	---	---					
C12orf74	338809	broad.mit.edu	37	12	93100418	93100423	+	In_Frame_Del	DEL	CAGAGT	CAGAGT	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr12:93100418_93100423delCAGAGT	ENST00000544406.2	+	2	277_282	c.11_16delCAGAGT	c.(10-18)aca>a	p.TES4del	C12orf74_ENST00000397833.3_In_Frame_Del_p.TES4del			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	4										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATGGAGAAAACAGAGTCATTCTGTCC	0.529													16	94	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742098	52742099	+	RNA	INS	-	-	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr13:52742098_52742099insA	ENST00000451298.1	-	0	3540_3541				RP11-64P12.8_ENST00000606031.1_RNA																							TCTAGATCACCAGCTTCTCCAC	0.475													9	21	---	---	---	---					
KHNYN	23351	broad.mit.edu	37	14	24901931	24901931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr14:24901931delT	ENST00000251343.5	+	4	1492	c.1353delT	c.(1351-1353)cafs	p.H451fs	KHNYN_ENST00000553935.1_Frame_Shift_Del_p.H451fs|KHNYN_ENST00000556842.1_Frame_Shift_Del_p.H451fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	451										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACTACAGGCATGGCCTCCAGC	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	110	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91548651	91548653	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr15:91548651_91548653delTTC	ENST00000333371.3	-	14	1415_1417	c.1062_1064delGAA	c.(1060-1065)aaa>aa	p.KK354del	VPS33B_ENST00000535843.1_In_Frame_Del_p.KK263del|VPS33B_ENST00000535906.1_In_Frame_Del_p.KK327del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	354					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTGCTTGGTTTTCTTCTTCATGA	0.507													15	266	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	189	---	---	---	---					
RP11-63A1.1	0	broad.mit.edu	37	17	44995963	44995974	+	RNA	DEL	ACACACACACAC	ACACACACACAC	-	rs71138561		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr17:44995963_44995974delACACACACACAC	ENST00000572349.1	-	0	224																											TAGCAGGCAGacacacacacacacacacacac	0.410													2	4	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53474118	53474118	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	4ef77426-560d-48fb-9adc-334962565c54	g.chr19:53474118delG	ENST00000600068.1	-	0	270				ZNF702P_ENST00000270443.4_RNA																							AACAACAATAGGTTTCCAATT	0.323													13	46	---	---	---	---					
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													3	4	---	---	---	---					
UBR4	23352	broad.mit.edu	37	1	19408294	19408295	+	Frame_Shift_Ins	INS	-	-	C	rs75559748	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr1:19408294_19408295insC	ENST00000375225.3	-	1	439_440	c.6_7insG	c.(4-9)ggcaggfs	p.R3fs	UBR4_ENST00000375224.1_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000429347.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	0					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTCCCTGGCCCCATGTCTA	0.545													4	2	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106713239	106713239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:106713239delC	ENST00000283148.7	-	14	1178	c.1081delG	c.(1081-1083)atfs	p.D362fs	UXS1_ENST00000540130.1_Frame_Shift_Del_p.D300fs|UXS1_ENST00000409032.1_Frame_Shift_Del_p.D189fs|UXS1_ENST00000409501.3_Frame_Shift_Del_p.D357fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	357					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGTGGGTCATCCTGGGCTTCG	0.473													8	7	---	---	---	---					
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													4	3	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													3	4	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100030533	100030551	+	Splice_Site	DEL	TGCCCTCAGGGTAATTATG	TGCCCTCAGGGTAATTATG	-	rs112447917	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:100030533_100030551delTGCCCTCAGGGTAATTATG	ENST00000310512.2	+	2	2059_2069	c.1671_splice	c.e2-1	p.T557_splice	MEPCE_ENST00000414441.1_Splice_Site_p.T88_splice	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	557	Bin3-type SAM.						methyltransferase activity	p.V561L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGATTCTTGCCCTCAGGGTAATTATGTGCTGGATCG	0.571													12	263	---	---	---	---					
C12orf74	338809	broad.mit.edu	37	12	93100418	93100423	+	In_Frame_Del	DEL	CAGAGT	CAGAGT	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:93100418_93100423delCAGAGT	ENST00000544406.2	+	2	277_282	c.11_16delCAGAGT	c.(10-18)aca>a	p.TES4del	C12orf74_ENST00000397833.3_In_Frame_Del_p.TES4del			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	4										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATGGAGAAAACAGAGTCATTCTGTCC	0.529													12	76	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742098	52742099	+	RNA	INS	-	-	A			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr13:52742098_52742099insA	ENST00000451298.1	-	0	3540_3541				RP11-64P12.8_ENST00000606031.1_RNA																							TCTAGATCACCAGCTTCTCCAC	0.475													7	20	---	---	---	---					
KHNYN	23351	broad.mit.edu	37	14	24901931	24901931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24901931delT	ENST00000251343.5	+	4	1492	c.1353delT	c.(1351-1353)cafs	p.H451fs	KHNYN_ENST00000556842.1_Frame_Shift_Del_p.H451fs|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.H451fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	451										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACTACAGGCATGGCCTCCAGC	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	157	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54557597	54557597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:54557597delA	ENST00000545554.1	+	9	3721	c.3721delA	c.(3721-3723)gtfs	p.S1241fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.S1239fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.S1241fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1241	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAGGGTCTAGTGATCCATA	0.328													2	4	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077376	85077376	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr15:85077376delG	ENST00000339094.1	-	0	1678					NR_003661.2																						aaaaaaaaAAGCATTTCAAGT	0.343													2	4	---	---	---	---					
TBC1D3P3	653017	broad.mit.edu	37	17	20451585	20451585	+	RNA	DEL	C	C	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:20451585delC	ENST00000591705.1	+	0	2902																											CAACACCAGGCCCCGGATGTT	0.498													2	4	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			10	173	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53474118	53474118	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:53474118delG	ENST00000600068.1	-	0	270				ZNF702P_ENST00000270443.4_RNA																							AACAACAATAGGTTTCCAATT	0.323													9	27	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085837	11085838	+	RNA	INS	-	-	TAC	rs151194290	by1000genomes	TCGA-44-3919-01A-02D-1105-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7617ba8-89d7-4db4-af11-5bf9368215f0	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr21:11085837_11085838insTAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		accatcaccatcaccaccacca	0.584													3	5	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106713239	106713239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr2:106713239delC	ENST00000283148.7	-	14	1178	c.1081delG	c.(1081-1083)atfs	p.D362fs	UXS1_ENST00000540130.1_Frame_Shift_Del_p.D300fs|UXS1_ENST00000409032.1_Frame_Shift_Del_p.D189fs|UXS1_ENST00000409501.3_Frame_Shift_Del_p.D357fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	357					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGTGGGTCATCCTGGGCTTCG	0.473													8	20	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100030533	100030551	+	Splice_Site	DEL	TGCCCTCAGGGTAATTATG	TGCCCTCAGGGTAATTATG	-	rs112447917	by1000genomes	TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:100030533_100030551delTGCCCTCAGGGTAATTATG	ENST00000310512.2	+	2	2059_2069	c.1671_splice	c.e2-1	p.T557_splice	MEPCE_ENST00000414441.1_Splice_Site_p.T88_splice	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	557	Bin3-type SAM.						methyltransferase activity	p.V561L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGATTCTTGCCCTCAGGGTAATTATGTGCTGGATCG	0.571													18	277	---	---	---	---					
RP4-555L14.4	0	broad.mit.edu	37	7	151124924	151124926	+	RNA	DEL	CTC	CTC	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr7:151124924_151124926delCTC	ENST00000465549.1	+	0	156_158																											CAAGGAccttctcctcctcctcc	0.611													2	4	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	18	---	---	---	---					
C12orf74	338809	broad.mit.edu	37	12	93100418	93100423	+	In_Frame_Del	DEL	CAGAGT	CAGAGT	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr12:93100418_93100423delCAGAGT	ENST00000544406.2	+	2	277_282	c.11_16delCAGAGT	c.(10-18)aca>a	p.TES4del	C12orf74_ENST00000397833.3_In_Frame_Del_p.TES4del			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	4										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATGGAGAAAACAGAGTCATTCTGTCC	0.529													16	94	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742098	52742099	+	RNA	INS	-	-	A			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr13:52742098_52742099insA	ENST00000451298.1	-	0	3540_3541				RP11-64P12.8_ENST00000606031.1_RNA																							TCTAGATCACCAGCTTCTCCAC	0.475													9	21	---	---	---	---					
KHNYN	23351	broad.mit.edu	37	14	24901931	24901931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:24901931delT	ENST00000251343.5	+	4	1492	c.1353delT	c.(1351-1353)cafs	p.H451fs	KHNYN_ENST00000556842.1_Frame_Shift_Del_p.H451fs|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.H451fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	451										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACTACAGGCATGGCCTCCAGC	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	110	---	---	---	---					
GEMIN2	8487	broad.mit.edu	37	14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-660)gtgfs	p.V220fs	GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	220					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GCTTTATTGGCTTGTCTTGAAA	0.351													9	295	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													15	407	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	189	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53474118	53474118	+	RNA	DEL	G	G	-			TCGA-44-3919-01A-02D-1458-08	TCGA-44-3919-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c0fe76a-3407-4e57-8a18-816e849c725d	47cd7eb5-6184-4506-b1ea-f62df97677eb	g.chr19:53474118delG	ENST00000600068.1	-	0	270				ZNF702P_ENST00000270443.4_RNA																							AACAACAATAGGTTTCCAATT	0.323													13	46	---	---	---	---